SNUBI Research :: J.Club  (2050 talks)
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  • 토요일 오전 10:30

  • 발표자
  • 안세환, 유준기, 임성수, 권호식, 문성희, 최선, 차재현, 윤미선, 전예진, 부은경, 조민아, 이시은

  • 팀:   발표자:    제목/키워드:    날짜:   

    01 임성수  
    01 유준기 APOE4 homozygosity represents a distinct form of Alzheimer disease    
    08 이시은  
    08 안세환  
    15 조민아  
    15 최선  
    22 권호식  
    22 윤미선  
    29 차재현  
    29 문성희  

    04 최선 Linking genotype to phenotype in multiomics data of small sample    
    04 안세환 Polygenic scores for cardiovascular risk factors improve estimation of clinical outcomes in CCB treatment compared to pharmacogenetic variants alone    
    11 유준기  
    11 문성희 Identification of potential core genes in colorectal carcinoma and key genes in colorectal cancer liver metastasis using bioinformatics analysis    
    18 권호식 Protein-altering variants at copy number-variable regions influence diverse human phenotypes    
    18 차재현 sc,spatial granuloma    
    25 전예진 Genome-wide Association Study of MTX-DILI in Rheumatoid Arthritis Patients 
    25 부은경 Genetic mapping across autoimmune diseases reveals shared associations and mechanisms    

    06 전예진 Deep learning-based phenotype imputation on population-scale biobank data     
    06 윤미선 A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome    
    13 차재현 Evaluation of Somatic Mutations in Solid Metastatic Pan-Cancer Patients    
    13 최선 Explainable multi-task learning for multimodality biological data analysis    
    20 부은경 Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease    
    20 조민아 Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network    
    27 이시은 Association between glycemic variability and shor    
    27 임성수 Drug ranking using machine learning systematically predicts the efficacy of anti-cancer drugs    

    02 차재현 Genomic landscape and prognosis of patients with TP53-mutated non-small cell lung cancer    
    02 전예진 Transforming and evaluating the UK Biobank to the OMOP CDM for COVID research    
    09 윤미선 Genome-wide prediction of disease variant effects with a deep protein language model    
    09 조민아 Genomic data in the All of Us Research Program    
    16 부은경 Inferring compound heterozygosity from large-scale exome sequencing data    
    16 유준기 Genome-wide analyses reveal the contribution of somatic variants to the immune landscape of multiple cancer types    
    23 임성수 Gene expression based inference of cancer drug sensitivity    
    23 이시은 Feasibility Study of Federated Learning on the Distributed Research Network of OMOP Common Data Model    
    30 안세환 Empowering personalized pharmacogenomics with generative AI solutions    
    30 권호식 CellAnn: a comprehensive, super-fast, and user-friendly single-cell annotation web server    

    03 이시은 Federated Medical Learning Framework Based on Blockchain and Homomorphic Encryption    
    03 안세환 Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity    
    10 ... 설날 
    10 ... 설날 
    17 권호식 The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death    
    17 최선 Network- and enrichment-based inference of phenotypes and targets from large-scale disease maps    
    24 유준기 cLD Rare variant linkage disequilibrium between genomic regions identifies novel genomic interactions    
    24 임성수 Disease clusters subsequent to anxiety and stress-related disorders    

    06 임성수 Synthetic lethality across normal tissues is strongly associated with cancer risk, onset, and tumor suppressor specificity    
    06 차재현 Macrophage-Related SPP1 as a Potential Biomarker for Early Lymph Node Metastasis in Lung Adenocarcinoma 
    13 전예진 the effect of CYP2C19 genotype on proxies of SSRI antidepressant response in the uk biobank    
    13 권호식 DNA Sequencing to Detect Residual Disease in Adults With Acute Myeloid Leukemia Prior to Hematopoietic Cell Transplant    
    20 윤미선 Genome-wide association study on pharmacological outcomes of musculoskeletal pain in UK Biobank    
    20 최선 Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications    
    27 부은경 Network-guided search for genetic heterogeneity between gene pairs     
    27 조민아 The multiplex network of human diseases    

    02 최선 Clustering of critically ill patients using an individualized learning approach enables dose optimization of mobilization in the ICU    
    02 윤미선 Populational pan-ethnic screening panel enabled by deep whole genome sequencing     
    09 차재현 An integrative analysis of the age-associated multi-omic landscape across cancers    
    09 부은경 Phenotype integration improves power and preserves specificity in biobank-based genetic studies of major depressive disorder    
    16 전예진 Multivariate genome-wide analysis of aging&    
    16 이시은 DNA language models are powerful predictors of genome-wide variant effects    
    23 조민아 Visualizing novel connections and genetic similarities across diseases using a network-medicine based approach    
    23 안세환 Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank    
    30 배소정 Genome-wide Association Study of Susceptibility to Respiratory Syncytial Virus Hospitalization in Young Children <5 Years of age    
    30 유준기 Identification of Ferroptosis-Related Genes in Alzheimer's Disease Based on Bioinformatic analysis    

    04 이시은 Medical informatics and digital health multilingual ontology (MIMO): A tool to improve international collaborations     
    04 배소정 Assessment of significance of conditionally independent GWAS signals    
    11 부은경 Age-dependent topic modeling of comorbidities in UK Biobank identifies disease subtypes with differential genetic risk    
    11 조민아 Mexican Biobank advances population and medical genomics of diverse ancestries    
    18 임성수 Mapping the landscape of synthetic lethal interactions in liver cancer    
    18 유준기 Global analysis of suppressor mutations that rescue human genetic defects    
    25 안세환 Deep mutational scanning of CYP2C19 reveals a substrate specificity-abundance tradeoff    
    25 권호식 Systematic pan-cancer analysis of mutation-treatment interactions using large real-world clinicogenomics data    

    07 이시은 Novel loci for Alzheimer’s disease identified by a genome-wide association study in Ashkenazi Jews    
    07 안세환 Structural variation of the coding and non-coding human pharmacogenome    
    14 최선 Llama 2: Open Foundation and Fine-Tuned Chat Models    
    14 권호식 Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics    
    21 임성수 A pan-cancer analysis of PBAF complex mutations and their association with immunotherapy response    
    21 윤미선 HLA-DQA1*05 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn’s disease patients    
    28 차재현 Detection of somatic structural variants from short-read next-generation sequencing data    
    28 전예진 Drug- Induced Liver Injury with Commonly Used Antibiotics in the All of Us Research Program    

    02 최선 PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework    
    02 차재현 Large mosaic cnv confer autism risk    
    09 윤미선 Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications    
    09 배소정 Genome-wide association study identifies new loci associated with risk of HBV infection and disease progression    
    16 부은경 Extremely sparse models of linkage disequilibrium in ancestrally diverse association studies    
    16 조민아 Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population    
    23 유준기 Allelic imbalance of chromatin accessibility in cancer identifies candidate causal risk variants and their mechanisms    
    23 전예진 Mendelian randomization analyses support causal relationships between blood metabolites and the gut microbiome    
    30 ... 추석연휴 
    30 ... 추석연휴 

    05 부은경 Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases    
    05 차재현 Sex-dependent shared and nonshared Genetic Architecture across mood and psychotic disorders    
    12 안세환 Chracterizing the combined effects of cytochrome P450 missense variation within star allele definitions    
    12 권호식 Single-cell transcriptome profiling of the stepwise progression of head and neck cancer    
    19 조민아 A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer    
    19 배소정 Genome-wide study on 72,298 individuals in Korean biobank data for 76 traits     
    26 임성수 Identification of core genes and pathways in melanoma metastasis via bioinformatics analysis    
    26 유준기 An allelic-series rare-variant association test for candidate-gene discovery    

    01 조민아 From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of CYP2C19    
    01 배소정 A cross-population atlas of genetic associations for 220 human phenotypes    
    08 임성수 Harnessing synthetic lethality to predict the response to cancer treatment    
    08 유준기 Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection    
    15 안세환 PharmaGScore scores of compound genetic variant burden for psychiatric treatment optimization    
    15 권호식 Cell type prioritization in single-cell data    
    22 최선 Medical Question Understanding and Answering with Knowledge Grounding and Semantic Self-Supervision    
    22 윤미선 The pharmacogenomic landscape of an Indigenous Australian population    
    29 이시은 Improving graph embeddings via entity linking: A case study on Italian clinical notes    
    29 전예진 Genetic validation of neurokinin 3 receptor antagonist for IHD prevention in men    

    03 최선 biomedgpt 
    03 권호식 STOmicsDB: a database of Spatial Transcriptomic data    
    10 임성수 Synthetic lethality-mediated precision oncology via the tumor transcriptome    
    10 윤미선 Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity     
    17 부은경 Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine    
    17 전예진 Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases 
    24 이시은 Defining the distance between diseases using SNOMED CT embeddings    
    24 차재현 .    

    06 배소정 Infectious disease outbreak prediction using machine learning articles with machine learning models    
    06 조민아 Participation bias in the UK Biobank distorts genetic associations and downstream analyses    
    13 부은경 Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models    
    13 안세환 A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants    
    20 이시은 The Effect of Genotyping on the Number of Pharmacotherapeutic Gene–Drug Interventions in Chronic Kidney Disease Patients    
    20 유준기 The genetic deteriminants of recurrent somatic mutations in 43,693 blood genomes    
    27 ... 부처님 오신날 
    27 ... 부처님 오신날 

    01 이시은 Novel Genetic Variants Associated with Chronic Kidney Disease Progression    
    01 조민아 A comparison of the genes and genesets identified by GWAS and EWAS of fifteen complex traits    
    08 안세환 A unifying model to predict variable drug response for personalised medicine.    
    08 유준기 Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes    
    15 임성수 Clinical and bionarker analyses of sintilimab plus gemcitabine and cisplatin as first-line treatment for patients with advanced biliary tract cancer    
    15 권호식 Confronting false discoveries in single-cell differential expression    
    22 전예진 Global Biobank Meta-analysis Initiative_Powering genetic discovery across human disease    
    22 차재현 Single-nucleus gene and gene set expression-based similarity network fusion identifies autism molecular subtypes    
    29 최선 GPT4    
    29 윤미선  

    04 권호식 Association of Genetic Ancestry and Molecular Signatures with Cancer Survival Disparities: A Pan-Cancer Analysis    
    04 유준기 Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia    
    11 최선 Language Is Not All You Need: Aligning Perception with Language Models    
    11 윤미선 Diffusion Models for Implicit Image Segmentation Ensembles    
    18 전예진 A 12-gene pharmacogenetic panel to prevent adverse drug reactions_an open-label, multicentre, controlled, cluster-randiomised crossover implementation study    
    18 조원일 Utility of long-read sequencing for All of Us    
    25 배소정 Single-cell RNA sequencing reveals a heterogeneous response to Glucocorticoids in breast cancer cells    
    25 부은경 Network expansion of genetic associations defines a pleiotropy map of human cell biology    

    04 전예진 Association Between Antiepileptic Drugs and Incident Parkinson Disease in the UK Biobank    
    04 김나영 A State-of-the Art Review of SNOMED CT Terminology Binding and Recommendations for Practice and Research    
    11 부은경 Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake    
    11 임영균 Mono- and biallelic variant effects on disease at biobank scale    
    18 안세환 Identification and functional validation of novel pharmacogenomic variants using a next-generation sequencing-based approach for clinical pharmacogenomics    
    18 조민아 An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data    
    25 이시은 Impact of SGLT2 inhibitors on old age patients with heart failure and chronic kidney disease    
    25 배소정 Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank    

    07 배소정 The landscape of host genetic factors involved in immune response to common viral infections    
    07 조원일 Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants     
    14 유준기 The impact of rare germline variants on human somatic mutation processes    
    14 권호식 Computational comparison of common event based differential splicing tools    
    21 ... 설날 
    21 ... 설날 
    28 최선 Temporal phenotyping using Deep predictive clustering of disease progression    
    28 윤미선 Identification of pathogenic genes associated with CKD: An integrated bioinformatics approach    

    03 부은경 An integral genomic signature approach for tailored cancer therapy using genome-wide sequencing data    
    03 권호식 Association of altered folylpolyglutamate synthetase pre-mRNA splicing with methotrexate unresponsiveness in early rheumatoid arthritis    
    10 최선 Association of Genome-Wide Polygenic Scores for Multiple Psychiatric and Common Traits in Preadolescent Youths at Risk of Suicide    
    10 김나영 Harvesting metadata in clinical care: a crosswalk between FHIR, OMOP, CDISC and openEHR metadata    
    17 윤미선 EagleImp: fast and accurate genome-wide phasing and imputation in a single tool    
    17 임영균 Genetic risk factors have a substantial impact on healthy life years     
    24 전예진 Loss of function, gain of function and dominant negative mutations have profoundly different effects on protein structure    
    24 조민아 Gene Size Matters: An Analysis of Gene Length in the Human Genome    
    31 안세환 Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population    
    31 이시은 A pre-trained BERT for Korean medical natural language processing    

    05 조원일 The genetic landscape of major drug metabolizing cytochrome P450 genes an updated analysis of population scale sequencing data     
    05 임영균 Pan-Cancer Analysis of Potential Synthetic Lethal Drug Targets Specific to Alterations in DNA Damage Response    
    12 정문경 Association of step counts over time with the risk of chronic disease in the All of Us Research Program    
    12 유준기 The mutational signatures of formalin fixation on the human genome    
    19 이시은 Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing    
    19 안세환 PharmaKU: A web-based tool aimed at improving outreach and clinical utility of pharmacogenomics    
    26 조민아 Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data    
    26 배소정 Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants     

    01 배소정 Ultrafast search of all deposited bacterial and viral genomic data    
    01 안세환 Aldy 4:An efficient genotypes and star-allele caller for pharmacygenomics    
    08 유준기 Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics    
    08 권호식 Identification of differentially expressed genes in lung adenocarcinoma cells using single-cell RNA sequencing not detected using traditional RNA sequencing and microarray    
    15 이우승 Impact of integrating genomic data into the electronic health record on genetics care delivery    
    15 윤미선 Returning individual genomic results to population‑based cohort study participants with BRCA1/2 pathogenic variants    
    22 최선 MolTrans_Molecular Interaction Transformer for DTI prediction    
    22 전예진 Integrating rare genetic variants into pharmacogenetic drug response predictions    
    29 부은경 Integrative analysis of drug response and clinical outcome in acute myeloid leukemia    
    29 김나영 Harmonization and standardization of data for a pan-European cohort on SARS- CoV-2 pandemic    

    03 김나영 CASIDE: A data model for interoperable cancer survivorship information based on FHIR    
    03 정문경 Recognizing Emotions among Couples Managing Diabetes in Daily Life using Multimodal Real-World Smartwatch Data    
    10 ... 추석 
    10 ... 추석 
    17 조원일 Genomewide pharmacogenetics of antidrug antibody response to bococizumab highlights key residues in HLA DRB1 and DQB1    
    17 이시은 Deep learning-based NLP data pipeline for EHR-scanned document information extraction    
    24 조민아 A Survey of Compound Heterozygous Variants in Pediatric Cancers and Structural Birth Defects    
    24 부은경 Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility    

    06 배소정 A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections    
    06 유준기 Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine    
    13 권호식 Copy number variation is highly correlated with differential gene expression: a pan-cancer study    
    13 최선 Integrative multiomics-histopathology analysis for breast cancer classification    
    20 이우승 A pan cancer compendium of chromosomal instability    
    20 윤미선 Development of an extensive workflow for comprehensive clinical pharmacogenomic profiling: lessons from a pilot study on 100 whole exome sequencing data    
    27 전예진 Biobank Scale Pharmacogenomics Informs the Genetic Underpinnings of Simvastatin Use    
    27 임영균 Improved pathogenicity prediction for rare human missense variants    

    02 이시은 Automatically disambiguating medical acronyms with ontology-aware deep learning 
    02 전예진 Combination of Genome-Wide Polymorphisms and CNVs of Pharmacogenes in Koreans    
    09 임영균 Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants     
    09 김나영 Developing an ETL tool for converting the PCORnet CDM into the OMOP CDM to facilitate the COVID-19 data integration    
    16 정문경 Enabling Research and Clinical Use of Patient-Generated HealthData (the mindLAMP Platform): Digital Phenotyping Study    
    16 조민아 Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission    
    23 안세환 Dating genomic variants and shared ancestry in population scale sequencing data    
    23 조원일 Pharmacogenetic genotype and phenotype frequencies in a large Danish population-based case-cohort sample    
    30 이시은 Leveraging clinical data across healthcare institutions for continual learning of predictive risk models    
    30 부은경 A global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank 

    04 배소정 Loss of Bacitracin Resistance Due to a Large Genomic Deletion among Bacillus anthracis Strains    
    04 최선 Multi-omics prediction of immune-related adverse events during checkpoint immunotherapy    
    11 부은경 Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study    
    11 권호식 The frequency of the known mitochondrial variants associated with drug‑induced toxicity in a Korean population    
    18 안세환 Evaluation of population-level pharmacogenetic actionability in Alabama    
    18 유준기 Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity    
    25 이우승 A general framework for identifying oligogenic combinations of rare variants in complex disorders    
    25 윤미선 Building digital twins of the human immune system: toward a roadmap    

    07 최선 Pre-training graph neural networks for link prediction in biomedical networks    
    07 윤미선 Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data    
    14 전예진 GWAS suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank      
    14 김나영 Defining health data elements under the HL7 development framework for metadata management    
    21 임영균 Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes    
    21 정문경 A fusion decision system to identify and grade malnutrition in cancer patients: Machine learning reveals feasible workflow from representative real-world data    
    28 조원일 Comprehensive Allele Genotyping in Critical Pharmacogenes Reduces Residual Clinical Risk in Diverse Populations     
    28 조민아 A systems genomics approach to uncover patient-specific pathogenic pathways and proteins in ulcerative colitis    

    02 윤미선 Genetic associations of protein-coding variants in human disease    
    02 최선 DeSIDE_DDI interpretable prediction of drug_drug interactions      
    09 이시은 Developing a Clinical Prediction Rule for Gait Independence at Discharge in Patients with Stroke: A Decision-Tree Algorithm Analysis    
    09 안세환 Pharmacogenomic landscape of Indian population using whole genomes    
    16 조민아 The complete sequence of a human genome     
    16 조원일 Automated Pharmacogenomic Reports for Clinical Genome Sequencing    
    23 부은경 New insights into the genetic etiology of Alzheimer’s disease and related dementias    
    23 권호식 Mitochondrial DNA variation across 56,434 individuals in gnomAD    
    30 유준기 The individual and global impact of copy-number variants on complex human traits    
    30 이우승 Interpretable prioritization of splice variants in diagnostic next-generation sequencing    

    05 이시은 ECG‑based machine‑learning algorithms for heartbeat classification    
    05 안세환 Massively parallel characterization of CYP2C9 variant enzyme activity and abundance    
    12 유준기 Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank    
    12 권호식 Changes in Plasma Amyloid and Tau in a Longitudinal Study of Normal Aging, Mild Cognitive Impairment, and Alzheimer’s Disease    
    19 이우승 Intergrative single cell analysis of allele specific copy number alterations and chromatin accessibility in cancer    
    19 임영균 A pan-cancer landscape of somatic mutations in non-unique regions of the human genome    
    26 김나영 Common Data Elements for Meaningful Stroke Documentation in Routine Care and Clinical Research: Retrospective Data Analysis    
    26 정문경 Design issues in personalized nutrition advice systems    

    05 조원일 Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.pdf    
    05 김나영 PGHD management and quality challenges in remote patient monitoring    
    12 서명의
    12 윤미선 Pharmacogenomic analysis of a genetically distinct Indigenous population    
    19 임영균 The Cancer Surfaceome Atlas integrates genomic, functional and drug response data to identify actionable targets    
    19 부은경 Whole-genome sequencing in diverse subjectsidentifies genetic correlates of leukocyte traits:The NHLBI TOPMed program    
    26 정문경 Hybrid Ubiquitous Coaching With a Novel Combination of Mobile and Holographic Conversational Agents Targeting Adherence to Home Exercises: Four Design and Evaluation Studies    
    26 조민아 Germline burden of rare damaging variants negatively affects human healthspan and lifespan    

    01 ... 신정 
    01 ... 신정 
    08 홍진희 A simple CNN for prediction of enhancer-promoter interactions with DNA seq data    
    08 안세환 Phenotype prediction and characterization of 25 pharmacogenes in Thais from whole genome sequencing for clinical implementation    
    15 조민아 An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci     
    15 권호식 Genetic Background of Mesalamine-induced Fever and Diarrhea in Japanese Patients with Inflammatory Bowel Disease    
    22 유준기 Exome variant discrepancies due to reference-genome differences    
    22 이우승 The context-specific role of germline pathogenicity in tumorigenesis    
    29 이시은 Automatic electrocardiogram detection and classification using bidirectional long short-term memory network improved by Bayesian optimization    
    29 최선 Multi-omic machine learning predictor of breast cancer therapy response    

    04 김나영 Mapping the Korean National Health Checkup Questionnaire to Standard Terminologies    
    04 임영균 Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology     
    11 정문경 Combined prognostic value of malnutrition using GLIM criteria and renal insufficiency in elderly heart failure    
    11 조원일 Genome-wide Study Identifies Association between HLA-B*55:01 and Self-Reported Penicillin Allergy    
    18 서명의 High antibiotic resistance of Helicobacter pylori and its associated novel gene mutations among the mongolian population    
    18 부은경 A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk    
    25 ... 성탄절 
    25 ... 성탄절 

    06 조원일 Validation of lipid-related therapeutic targets for coronary heart disease prevention using human genetics     
    06 안세환 Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmaacogene-specific ensemble classifier    
    13 홍진희 Components of genetic associations across 2,138 phenotype in the UK Biobank highlight adipocyte biology    
    13 이시은 Research on intelligent medical big data system based on Hadoop and blockchain    
    20 이우승 Allele-specific genomic data elucidate the role of somatic gain and copy-number neutral loss of heterozygosity in cancer    
    20 최선 MOGONET 
    27 유준기 Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories    
    27 윤미선 Semi-supervised Contrastive Learning for Label-efficient Medical Image Segmentation    

    02 최선 The measurement of Cobb angle based on spine X ray    
    02 임영균 Rare variant contribution to human disease in 281,104 UK Biobank exomes    
    09 ... 한글날 
    09 ... 한글날 
    16 김나영 Pragmatic MDR: a metadata repository with bottom up standardization of medical metadata through reuse    
    23 조민아 Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes    
    23 서명의 Position effects at the FGF8 locus are associated with femoral hypoplasia    
    30 정문경 A simulation-based evaluation of machine learning models for clinical decision support: application and analysis using hospital readmission    
    30 부은경 Polygenic basis and biomedical consequences of telomere length variation    

    04 조원일 Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases    
    04 이시은 Deep-learning-based automated terminology mapping in OMOP-CDM     
    11 홍진희 scRNA-seq technologies and related computational data analysis 
    11 조동영 Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank    
    18 권호식 Copy number variation profiling in pharmacogenes using panel-based exome resequencing and correlation to human liver expression    
    18 이우승 Synthetic lethality mediated precision oncology via the tumor transcriptome    
    25 유준기 Set based rare variant expression quantitative trait loci in blood and brain from Alzheimer Disease study participants    
    25 안세환 High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios    

    07 김나영 Towards achieving semantic interoperability of clinical study data with FHIR    
    07 임영균 Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants    
    14 윤미선 Encoding CT Anatomy Knowledge for Unpaired Chest X-ray Image Decomposition    
    14 서명의 Comparison of culture with antibiogram to NGS using bacterial isolates and formalin fixed paraffin embedded gastric biopsies    
    21 김주연 Utilising large electronic medical record datasets to identify novel drug-gene interactions for commonly used drugs    
    21 정문경 Development of a Spanish food exchange list: application of statistical criteria to a rationale procedure    
    28 조민아 The molecular basis, genetic control and pleiotropic effects of local gene co-expression    
    28 부은경 Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses    

    03 조민아 A framework to decipher the genetic architecture of combinations of complex diseases: Applications in cardiovascular medicine    
    03 이시은 A Transparent and Privacy-Preserving Healthcare Platform With Novel Smart Contract for Smart Cities    
    10 홍진희 Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood    
    10 조동영 Genome-wide study identifies association between HLA-B*55:01 and penicillin allergy    
    17 유준기 Association between major depressive disorder and multiple disease outcomes: a phenome-wide Mendelian randomisation study in the UK Biobank    
    17 권호식 Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK Biobank exomes    
    24 김형준 Combining Ontologies and Open Standards to Derive a Middle Layer Information Model for Interoperability of Personal and Electronic Health Records    
    24 안세환 Haplotype-resolved diverse human genomes and integrated analysis of structural variation    
    31 최선 Medical Transformer: Gated Axial-Attention for Medical Image Segmentation    
    31 이우승 The tumor therapy landscape of synthetic lethality    

    05 유준기 Transcript expression-aware annotation improves rare variant interpretation    
    05 김형준 SMART Markers_ collecting patient-generated health data as a standardized property of health information technology    
    12 서명의 High-throughput reclassification of SCN5A variant    
    12 부은경 Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease    
    19 김주연 Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations    
    19 정문경 Genome-wide gene-diet interaction analysis in the UK Biobank identifies novel effects on Hemoglobin A1c    
    26 조원일 Genome-wide association study of medication-use and associated disease in the UK Biobank    
    26 김나영 One Step Away from Technology but One Step Towards Domain Experts-MDRBridge: A Template-Based ISO 11179-Compliant Metadata Processing Pipeline    

    01 이시은 An automatic method for lung segmentation and reconstruction in chest X-ray using deep neural networks    
    01 부은경 Genetics of 35 blood and urine biomarkers in the UK Biobank    
    08 안세환 Genetic ancestry plays a central role in population pharmacogenomics    
    08 최선 Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk    
    15 윤미선 Differential Gene Set Enrichment Analysis: a statistical approach to quantify the relative enrichment of two gene sets    
    15 권호식 A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data    
    22 이우승 Exploiting loss of heterozygosity for allele-selective colorectal cancer chemotherapy    
    22 유경훈 Genetic analyses identify widespread sex-differential participation bias    
    29 조동영 Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy    
    29 임영균 Evaluating the molecular diagnostic yield of joint genotyping–based approach for detecting rare germline pathogenic and putative loss-of-function variants 

    03 임영균 Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers    
    03 유경훈 Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS    
    10 김나영 QL4MDR: a GraphQL query language for ISO 11179-based metadata repositories    
    10 정문경 DIETOS: A dietary recommender system for chronic diseases monitoring and management    
    17 서명의 Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance    
    17 조원일 Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study    
    24 홍진희 Analysis of error profiles in deep next generation sequencing data    
    24 조민아 Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits    

    06 홍진희 Imputing Amino acid polymorphisms in human leukocyte antigens    
    06 조민아 The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1    
    13 부은경 Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture    
    13 안세환 Systems Pharmacogenomic Landscape of Drug Similarities from LINCS data: Drug Association Networks    
    20 권호식 Analysis of Drug Metabolizing Gene Panel in Osteosarcoma Patients Identifies Association Between Variants in SULT1E1, CYP2B6 and CYP4F8 and Methotrexate Levels and Toxicities    
    20 최선 Learning Transferable Visual Models From Natural Language Supervision    
    27 이우승 Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network    
    27 김형준 The HealthChain Blockchain for Electronic Health Records_Development Study    

    06 이우승 Comprehensive Analysis of Genetic Ancestry and ItsMolecular Correlates in Cancer    
    06 정문경 Statistical Issues in Analyzing 24-Hour Dietary Recall and 24-Hour Urine Collection Data for Sodium and Potassium Intakes    
    13 ... 설날 연휴 
    13 ... 설날 연휴 
    20 김형준 Article Implement an International Interoperable PHR by FHIR—A Taiwan Innovative Application    
    20 유경훈 The mutational constraint spectrum quantified from variation in 141,456 humans    
    27 최선 Insights into the genetic basis of retinal detachment    
    27 서명의 De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects    

    02 임영균 Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants    
    02 서명의 Genomic sequencing for newborn screening: results of the NC NEXUS project    
    09 유경훈 Pharmacogenetic information in Swiss drug labels – a systematic analysis    
    09 정문경 When Chatbots Meet Patients: One-Year Prospective Study of Conversations Between Patients With Breast Cancer and a Chatbot    
    16 홍진희 HLA typing from RNA-Seq sequence reads    
    16 안세환 A systematic comparison of pharmacogene star allele calling bioinformatics algorithm: a focus on CYP2D6 genotyping    
    23 부은경 Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals    
    23 조민아 Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7    
    30 권호식 Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico    
    30 임영균 e-MutPath: computational modeling reveals the functional landscape of genetic mutations rewiring interactome networks    

    05 안세환 A Proteotranscriptomic-Based Computational Drug-Repositioning Method for Alzheimer’s Disease    
    05 김지헌 Genome analysis and knowledge-driven variant interpretation with TGex    
    12 조민아 Imaging genomics discovery of a new risk variant for Alzheimer    
    12 홍진희 Association between Busulfan Exposure and Outcome in Children Receiving Intravenous Busulfan before Hematologic Stem Cell Transplantation    
    19 권호식 Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice    
    19 김형준 Blockchain for Secure EHRs Sharing of Mobile Cloud based E health Systems    
    26 최선 Comparison of laboratory threshold criteria in drug-induced liver injury detection algorithms for use in pharmacovigilance    
    26 이우승 Advances in germline predisposition to acute leukaemias and myeloid neoplasms    

    07 최선 Detecting drug-drug interactions using artificial neural networks and classic graph similarity measures    
    07 임영균 Phase and context shape the function of composite oncogenic mutations      
    14 유경훈 Drug Response Pharmacogenetics for 200,000 UK Biobank Participants    
    14 이우승 Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities    
    21 서명의 Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome    
    21 부은경 Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy    
    28 정문경 Designing for Health Chatbots    
    28 김주연 Population structure and pharmacogenomic risk stratification in the United States    

    03 ... 개천절 
    03 ... 개천절 
    10 김주연 Polygenic architecture informs potential vulnerability to drug-induced liver injury    
    10 조민아 PCSK5 mutation in a patient with the VACTERL association    
    17 안세환 Drug-induced adverse events prediction with the LINCS L1000 data    
    17 홍진희 Vitamin D and IBD: Mendelian randomization analyses in the Copenhagen studies and ukbb    
    24 부은경 Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale    
    24 김지헌 Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging    
    31 권호식 A novel statistical method for interpreting the pathogenicity of rare variants    
    31 김형준 Using HL7 FHIR to achieve interoperability in patient health record    

    05 김지헌 SWEDEGENE—a Swedish nation-wide DNA sample collection for pharmacogenomic studies of serious adverse drug reactions      
    05 이우승 The repertoire of mutational signatures in human cancer    
    12 임영균 A cancer drug atlas enables synergistic targeting of independent drug vulnerabilities    
    12 김형준 An Architecture and Management Platform for Blockchain-Based Personal Health Record Exchange: Development and Usability Study     
    19 정문경 Transparent sharing of digital health data: A call to action    
    19 유경훈 Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population    
    26 최선 Scalable and accurate deep learning with electronic health records    
    26 서명의 Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes    

    01 정문경 Interaction of DRD2/ANKK1 Taq1A Genotype with in-Store Retail Food Environment Exposures on Diet Quality in a Cohort of Quebec Adults      
    01 서명의 De novo variants in SPOP cause two clinically distinct neurodevelopmental disorders    
    08 채정환 Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses    
    08 부은경 High-definition likelihood inference of genetic correlations across human complex traits    
    15 ... 광복절 
    15 ... 광복절 
    22 조민아 Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden    
    22 안세환 Improving cell-specific drug connectivity mapping with collaborative filtering    
    29 홍진희 .6mp metabolite profiles provide a biochemical explanation for 6mp resistance in patients with inflammatory bowel disease    
    29 권호식 A functional polymorphism in the ATP-Binding Cassette B1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients    

    04 권호식 Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes    
    04 이우승 Korean Genome Project: 1094 Korean personal genomes with clinical information    
    11 윤선민 De novo variants in exomes of congenital heart disease patients identify risk genes and pathways    
    11 김형준 Development of Comprehensive Personal Health Records Integrating Patient-Generated Health Data Directly From Samsung S-Health and Apple Health Apps    
    18 최선 Comprehensive comparative effectiveness and safety of first-line antihypertensive drug classes: a systematic, multinational, large-scale analysis    
    18 유경훈 Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts    
    25 임영균 A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer    
    25 김주연 Projected impact of pharmacogenomic testing on medications beyond antiplatelet therapy in percutaneous coronary intervention patients    

    06 ... 현충일 
    06 ... 현충일 
    13 박유미 Pharmacogenetics at scale: An analysis of the UK Biobank    
    13 안세환 Evaluation of Connectivity Map shows limited reproducibility in drug repositioning    
    20 홍진희 wgs is more poweful than wes for detecting exome variants    
    20 김효정 An ancillary genomics system to support the return of pharmacogenomic results    
    27 조민아 Allele Frequency of Pathogenic Variants Related to Adult-Onset Mendelian Diseases    
    27 김지헌 The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities    

    02 최선 DeepTox_Toxicity Prediction using Deep Learning    
    02 김형준 Toward a Model for Personal Health Record Interoperability    
    09 윤선민 Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis    
    09 임영균 A reference map of the human binary protein interactome    
    16 정문경 Aggregating multiple real-world data sources using a patient-centered health-data-sharing platform    
    16 김주연 Pharmacogenomic-Based Decision-Support to Predict Adherence to Medications    
    23 채정환 Development of CRISPR as an Antiviral Strategy to Combat SARS-CoV-2 and Influenza    
    23 한봄 Predicted efficacy of a pharmacogenetic passport for inflammatory bowel disease    
    30 서명의 SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility    
    30 부은경 Complementary genes contribute sex-biased vulnerability in diverse disorders    

    04 서명의 Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain-specific neurodevelopmental disorders    
    04 부은경 Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk    
    11 한봄 Whole genome sequencing to identify predictive markers for the risk of drug-induced interstitial lung disease    
    11 박유미 Minimal phenotyping yields genome-wide association signals of low specificity for major depression    
    18 안세환 Predict New Therapeutic Drugs for Hepatocellular Carcinoma Based on Gene Mutation and Expression    
    18 김효정 Concepts Driving Pharmacogenomics Implementation Into Everyday Healthcare    
    25 권호식 Genetic and clinical prediction models for the efficacy and hepatotoxicity of methotrexate in patients with rheumatoid arthritis: a multicenter cohort study    
    25 이우승 Interplay between whole-genome doubling and the accumulation of deleterious alterations in cancer evolution     

    07 윤선민 Time to Rethink the Genetic Architecture of Long QT Syndrome     
    07 유경훈 A genetics-led approach defines the drug target landscape of 30 immune-related traits    
    14 임영균 Identification of cancer driver genes based on nucleotide context    
    14 최선 A Hybrid Health Journey Recommender System using Electronic Medical Record    
    21 정문경 The mechanisms of pharmacokinetic food_drug interactions_A perspective from the UNGAP group    
    21 김주연 Estimated nationwide impact of implementing a preemptive pharmacogenetic panel approach to guide drug prescribing in primary care in The Netherlands    
    28 국수경 Integrative analysis of multi-omics data identified EGFR and PTGS2 as key nodes in a gene regulatory network related to immune phenotypes in head and neck cancer    
    28 채정환 The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants    

    01 채정환 Hyperactivation of TORC1 Drives Resistance to the Pan-HER Tyrosine Kina 
    01 한봄 The GenomeAsia 100K Project enables genetic discoveries across Asia    
    08 국수경 Shared genetic and epigenetic mechanisms between chronic periodontitis    
    08 김효정 Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network     
    15 박유미 GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes     
    15 안세환 eVIP2: Expression-based variant impact phenotypic to predict the function of gene variants    
    22 부은경 Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts    
    22 이우승 Discovering the anticancer potential of nononcology drugs by systematic viability profiling    
    29 권호식 Identification of pathogenic variant enriched regions across genes and gene families    
    29 김형준 OmniPHR: A distributed architecture model to integrate personal health records    

    04 임영균 The mutational footprints of cancer therapies    
    04 권호식 Evaluating potential drug targets through human loss-of function genetic variation    
    11 정문경 Multi-trait genome-wide association meta-analysis of dietary intake identifies new loci and genetic and functional links with metabolic traits    
    11 유승원 Inverse similarity and reliable negative samples for drug side-effect prediction    
    18 서명의 Gain-of-function MN1 truncation variants cause a recognizable syndrome with craniofacial and brain abnormalities    
    18 김주연 Economic burden of adverse drug reactions and potential for pharmacogenomic testing in Singaporean adults    
    25 ... 설날 
    25 ... 설날 

    07 박유미 Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations    
    07 안세환 .    
    14 김효정 Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network    
    14 최선 Medical device surveillance with electronic health records    
    21 이우승 UK-Biobank Whole Exome Sequence Binary Phenome Analysis with Robust Region-based Rare Variant Test     
    21 유경훈 Towards precision medicine: interrogating the human genome to identify drug pathways associated with potentially functional, population-differentiated polymorphisms    
    28 김형준 Secure and Scalable mHealth Data Management Using Blockchain Combined With Client Hashchain: System Design and Validation    
    28 윤선민 Determining the balance between drug efficacy and safety by the network and biological system profile of its therapeutic target    

    02 유경훈 Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network    
    02 김기태 Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity    
    09 임영균 Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype    
    09 한봄 HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes    
    16 유승원 prioritizing target-disease associations with novel safety and efficacy scoring methods    
    16 서명의 Diagnostic utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism-a five-year cumulative cohort    
    23 채정환 Low Dose of Paclitaxel Combined with XAV939 Attenuates Metastasis, Angiogenesis and Growth in Breast Cancer by Suppressing Wnt Signaling.    
    23 국수경 A three-gene expression signature associated with positive surgical margins in tongue squamous cell carcinomas: Predicting surgical resectability from tumour biology?    
    30 부은경 Discovering personalized driver mutation profiles of single samples in cancer by network control strategy    
    30 김재환 Recommendations for Clinical CYP2C9 Genotyping Allele Selection    

    05 안세환 Drug Gene Budger (DGB): an application for ranking drugs to modulate a specific gene based on transcriptomic signatures.    
    05 권호식 Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations    
    12 이우승 How good are pathogenicity predictors in detecting benign variants?    
    12 최선 BioBERT: a pre-trained biomedical language representation model for biomedical text mining    
    19 김형준 Tamper Resistant Mobile Health Using Blockchain Technology    
    19 윤선민 Genotype-based Treatment With Thiopurine Reduces Incidence of Myelosuppression in Patients With Inflammatory Bowel Diseases    
    26 윤선민 Genotype-based Treatment With Thiopurine Reduces Incidence of Myelosuppression in Patients With Inflammatory Bowel Diseases     
    26 김주연 Analyzing the Clinical Actionability of Germline Pharmacogenomic Findings in Oncology    

    07 한봄 Understanding HLA associations from SNP summary association statistics    
    07 국수경 Immune profiles in primary squamous cell carcinoma of the head and neck    
    14 ...  
    14 ...  
    21 김재환 Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines    
    21 박유미 Massive parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity    
    28 부은경 Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing    
    28 김효정 The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system    

    03 임영균 RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues    
    03 윤선민 Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation    
    10 김기태 Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome    
    10 유경훈 Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study    
    17 이우승 A longtudinal big data approach for precision health    
    17 민병주 Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease    
    24 김주연 Characterizing pharmacogenomic-guided medication use with a clinical data repository    
    24 서명의 Paralog studies augment gene discovery:DDX and DHX genes    
    31 유승원 Drug combination sensitivity scoring facilitates the discovery of synergistic and efficacious drug combinations in cancer    
    31 채정환 PPM1D Mutations Drive Clonal Hematopoiesis in Response to Cytotoxic Chemotherapy    

    06 민유정 TogoGenome/TogoStanza: modularized Semantic Web genome database    
    06 부은경 Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk    
    13 김재환 A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards    
    13 박유미 Evolutionary coupling analysis identifies the impact ofdisease-associated variants at less-conserved sites    
    20 안세환 L1000 Viewer: A Search Engine and Web Interface for the LINCS Data Repository    
    20 권호식 Pathogenic Germline Variants in 10,389 Adult Cancers    
    27 김효정 A Pharmacogenomics Clinical Decision Support Service Based on FHIR and CDS Hooks     
    27 최선 Cardiologist-level arrhythmia detection and classification in ambulatory electrocardiograms using a deep neural network    

    01 민유정 .Genomic Common Data Model for Seamless Interoperation of Biomedical Data in Clinical Practice: Retrospective Study    
    01 유경훈 Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program    
    08 김주연 Network, transcriptomic and genomic features differentiate genes relevant for drug response    
    08 민병주 Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia    
    15 김기태 Conditional and interaction gene-set analysis reveals novel functional pathways for blood pressure    
    15 유승원 Systematic discovery of germline cancer predisposition genes through the identification of somatic second hits    
    22 서명의 Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington Disease    
    22 채정환 Genomic and Transcriptomic Landscape of Triple-Negative Breast Cancers: Subtypes and Treatment Strategies    
    29 한봄 Immune diversity sheds light on missing variation in worldwide genetic diversity panels    
    29 국수경 Tracing Oncogene Rearrangements in the Mutational History of Lung Adenocarcinoma.    

    04 김재환 Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion    
    04 부은경 Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma    
    11 안세환 New drug candidates for treatment of atypical meningiomas: An integrated approach using gene expression signatures for drug repurposing    
    11 김효정 Pharmacogenomic clinical decision support design and multi-site process outcomes analysis in the eMERGE Network    
    18 권호식 The germline genetic component of drug sensitivity in cancer cell lines    
    18 이우승 Somatic_Mutations_increase_Hepatic_Clonal_Fitness_and_Regeneration_in_Chronic_Liver_Disease    
    25 임영균 Prioritization of cancer therapeutic targets using CRISPR-Cas9 screens    
    25 윤선민 Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.    

    06 채정환 A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder    
    06 서명의 Variants of unknown significance in genes associated with heritable thoracic aortic disease can be low penetrant ‘‘risk variants’’    
    13 김주연 Analysis of comprehensive pharmacogenomic profiling to impact in-hospital prescribing    
    13 유승원 Discovering the ‘Dark matters’ in expression data of miRNA based on the miRNA-mRNA and miRNA-lncRNA networks    
    20 한봄 Cross-ethnicity tagging SNPs for HLA alleles associated with adverse drug reaction    
    20 국수경 Whole-exome sequencing and clinical interpretation of FFPE tumor samples to guide precision cancer medicine    
    27 최선 Using RNN to predict heart failure    
    27 박유미 Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank    

    02 박유미 Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder    
    02 김효정 Toward a normalized clinical drug knowledge base in China—applying the RxNorm model to Chinese clinical drugs    
    09 권호식 Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions    
    09 이우승 Re-identification of individuals in genomic data-sharing beacons via allele inference    
    16 최선 Risk prediction for chronic kidney disease progression using heterogeneous electronic health record data and time series analysis    
    16 윤선민 Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach    
    23 임영균 Widespread Selection for Oncogenic Mutant Allele Imbalance in Cancer    
    23 유경훈 Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance    
    30 김기태 Pathway Based Analysis of Mutation Data Is Efficient for Scoring Target Cancer Drugs    
    30 민병주 An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders    

    02 김주연 Projected impact of a multigene pharmacogenetic test to optimize medication prescribing in cardiovascular patients    
    02 서명의 The malaria-protective human glycophorin structural variant DUP4 shows somatic mosaicism and association with hemoglobin levels    
    09 유승원 Predicting protein-protein interactions using high-quality non-interacting pairs 
    09 정문경  
    16 정문경 Patients Know Best: Qualitative Study on How Families Use Patient-Controlled Personal Health Records    
    16 유경훈 Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data    
    23 채정환 Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population    
    23 안세환 GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases    

    05 권호식 ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants    
    05 이우승 Forward and reverse mutations in stages of cancer development    
    12 최선 Active Disease Surveillance in an Electronic Health Database Using a Common Data Model Based Tool     
    12 윤선민 High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer    
    19 임영균 A map of constrained coding regions in the human genome    
    19 한봄 Functional annotation of genomic variants in studies of late-onset Alzheimer    
    26 김기태 Efficiient Parameter Estimation Enables the Prediction of Drug Response Using a Mechanistic Pan-Cancer Pathway Model    
    26 민병주 Genetic Determinants and Prediction of Antibiotic Resistance Phenotypes in Helicobacter pylori    

    01 서명의 Homozygous mutations in WEE2 cause fertilization failure and female infertility     
    01 유승원 In silico profiling of systemic effects of drugs to predict unexpected interactions    
    08 채정환 Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia    
    08 한봄 Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data.    
    15 정문경 Advancing Models and Theories for Digital Behavior Change Interventions    
    15 이정훈 Pathway-Based Drug Repositioning for Cancers: Computational Prediction and Experimental Validation    
    22 박유미 Estimating the selective effects of heterozygous protein-truncating variants from human exome data    
    22 안세환 PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations    
    29 김효정 Accuracy of an automated knowledge base for identifying drug adverse reactions    
    29 권호식 ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants    

    03 임영균 Network Propagation Predicts Drug Synergy in Cancers    
    03 이우승 The chromatin accessibility landscape of primary human cancers    
    10 최선 MedEx: a medication information extraction system for clinical narratives    
    10 권호식 Intersect-then-combine approach: improving the performance of somatic variant calling in whole exome sequencing data using multiple aligners and callers    
    17 민병주 Application of next-generation sequencing to characterize novel mutations in clarithromycin-susceptible Helicobacter pylori strains with A2143G of 23S rRNA gene    
    17 김주연 Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes    
    24 유경훈 An optimized prediction framework to assess the functional impact of pharmacogenetic variants    
    24 김기태 Pathway-structured predictive modeling for multi-level drug response in multiple myeloma    

    06 유승원 Mapping biological process relationships and disease    
    06 채정환 ANGPTL3 Deficiency and Protection Against Coronary Artery Disease    
    13 박유미 Trans effects on gene expression can drive omnigenic inheritance    
    20 이정훈 Synthetic Lethality-based Identifcation of Targets for Anticancer Drugs in the Human Signaling Network    
    20 한봄 MediSyn: uncertainty-aware visualization of multiple biomedical datasets to support drug treatment selection    
    27 안세환 VarCards: an integrated genetic and clinical database for coding variants in the human genome    
    27 김효정 Towards Implementation of OMOP in a German University Hospital Consortium    

    01 권호식 The landscape of genomic alterations across childhood cancers    
    01 이우승 Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines    
    08 임영균 Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer    
    08 김기태 Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines    
    15 유경훈 Covariate selection for association screening in multiphenotype genetic studies    
    15 민병주 Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes    
    22 ... 추석    
    22 ... 추석    
    29 김주연 Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum    
    29 서명의 A dominantly inherited 5` UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer     

    04 정문경 Histidine catabolism is a major determinant of methotrexate sensitivity      
    04 한봄 Applications of pharmacogenomics in regulatory science: a product life cycle review    
    11 유승원 In silico Pathway Activation Network Decomposition Analysis (iPANDA) as a method for biomarker development    
    11 이정훈 Classifying tumors by supervised network propagation    
    18 박유미 Loose ends: almost one in five human genes still have unresolved coding status    
    18 이수현 Analysis of safety reporting requirements during medical device clinical trials in Japan.    
    25 안세환 Gene Graphics: a genomic neighborhood data visualization web application    
    25 김효정 Genomic decision support needs in pediatric primary care    

    07 김효정 Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings    
    07 임영균 Systematic analysis of complex genetic interactions    
    14 안세환 Genome U-Plot:a whole genome visualization    
    14 김주연 Impact of germline and somatic missense variations on drug binding sites    
    21 김기태 Relationship between Deleterious Variation, Genomic Autozygosity, and Disease Risk: Insights from The 1000 Genomes Project    
    21 민병주 Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence    
    28 서명의 Functional assays are essential for interpretation of missense variants associated with variable expressivity    
    28 채정환 Association Between SLC16A5 Genetic Variation and Cisplatin Induced Ototoxic Effects in Adult Patients With Testicular Cancer    

    02 한봄 Cost-effectiveness of HLA-DQB1/HLA-B pharmacogenetic-guided treatment and blood monitoring in US patients taking clozapine    
    02 정문경 First-Stage Development and Validation of a Web-Based Automated Dietary Modeling Tool: Using Constraint Optimization Techniques to Streamline Food Group and Macronutrient Focused Dietary Prescriptions    
    09 채정환 methylation of l1re1, rarb, and rassf1 function as possible biomarkers for the differential diagnosis of lung cancer.    
    09 박유미 Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease    
    16 이정훈 Individual specific edge-network analysis for disease prediction    
    16 이수현 Large-scale adverse effects related to treatment evidence standardization (LAERTES): an open scalable system for linking pharmacovigilance evidence sources with clinical data    
    23 유경훈 Identification of Misclassified ClinVar Variants via Disease Population Prevalence    
    23 김형준 Secure and Trustable Electronic Medical Records Sharing using Blockchain    
    30 권호식 Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes    
    30 이우승 Negative selection in tumor genome evolution acts on essential cellular functions and the immunopeptidome    

    05 ... 공휴일 
    05 ... 공휴일 
    12 유경훈 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression    
    12 민병주 Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy    
    19 서명의 Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity    
    19 박지연 Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation    
    26 김주연 Patient-Centered Precision Health In A Learning Health Care System: Geisinger’s Genomic Medicine Experience    
    26 유승원 Systematic identification of feature combinations for predicting drug response with Bayesian multi-view task linear regression    

    07 윤선민 Lessons learned from additional research analyses of unsolved clinical exome cases    
    07 권호식 Analysis of a gene panel for targeted sequencing of colorectal cancer samples    
    14 이우승 Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls    
    14 김형준 MedRec Using Blockchain for Medical Data Access and Permission Management    
    21 이수현 Medication class enrichment analysis: a novel algorithm to analyze multiple pharmacologic exposures simultaneously using electronic health record data    
    21 임영균 Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics     
    28 김기태 An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics    
    28 김민정 Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes    

    03 서명의 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium    
    03 박지연 Identification of protein features encoded by alternative exons using Exon Ontology    
    10 유승원 A framework for the detection of de novo mutations in family-based sequencing data    
    10 채정환 Deep learning improves prediction of CRISPR-Cpf1 guide RNA activity    
    17 한봄 Evaluating somatic tumor mutation detection without matched normal samples    
    17 정문경 Genomic Landscape of Cell-Free DNA in Patients with Colorectal Cancer      
    24 이정훈 Link synthetic lethality to drug sensitivity of cancer cells    
    24 박유미 The Medical Genome Reference Bank: a whole genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design    
    31 김효정 Drug knowledge bases and their applications in biomedical informatics research    
    31 안세환 Visualization portal for genetic variation(VizGVar): a tool for interactive visualization of SNPs and somatic mutations in exons, genes and protein domains    

    03 김형준 Building a semantic web based metadata repository for facilitating detailed clinical modeling in cacer genome studies    
    03 김기태 A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles    
    10 류영재 Reversal of cancer gene expression correlates with drug efficacy and reveals therapeutic targets    
    10 민병주 Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization    
    17 ... 공휴일 
    17 ... 공휴일 
    24 김민정 Integrative analysis of genome-wide gene copy number changes and gene expression in non-small cell lung cancer    
    24 김주연 Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary Intervention    

    06 이정훈 Hybrid Approach of Relation Network and Localized Graph Convolutional Filtering for Breast Cancer Subtype Classification    
    06 박유미 Pharmacogenomics of GPCR Drug Targets    
    13 김효정 A Realism-Based View on Counts in OMOP\'s Common Data Model    
    13 이우승 Network dynamics-based cancer panel stratification for systemic prediction of anticancer drug response    
    20 권호식 Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma    
    20 유경훈 Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomes    
    27 윤선민 Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes    
    27 임영균 Combination Cancer Therapy Can Confer Benefit via Patient-to-Patient Variability without Drug Additivity or Synergy    

    02 박호경 Risk factors of isoniazid-induced hepatotoxicity in Tunisian tuberculosis patients    
    02 김기태 Discovering novel pharmacogenomic biomarkers by imputing drug response in cancer patients from large genomics studies    
    09 류영재 Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension    
    09 민병주 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder    
    16 김민정 Changes in gene expression variability reveal a stable synthetic lethal interaction network in BRCA2- ovarian cancers    
    16 김주연 Pharmacogenomics-Based Point-of-Care Clinical Decision Support Significantly Alters Drug Prescribing    
    23 서명의 PGBD5 promotes site-specific oncogenic mutations in human tumors    
    23 박지연 Annotation-free quantification of RNA splicing using LeafCutter    
    30 ...     
    30 ...     

    04 박유미 Variant Interpretation: Functional Assays to the Rescue    
    04 김효정 Reverse translation of adverse event reports paves the way for de-risking preclinical off-targets    
    11 윤선민 Genetic variation in human drug-related genes     
    11 이우승 Overexpressed Somatic Alleles are Enriched in Functional Elements in Breast Cancer    
    18 김형준 Comparing the Performance of NoSQL Approaches for Managing Archetype Based Electronic Health Record Data    
    18 권호식 Multiregion Whole-Exome Sequencing Uncovers the Genetic Evolution and Mutational Heterogeneity of Early-Stage Metastatic Melanoma    
    25 임영균 Comprehensive Analysis of Hypermutation in Human Cancer    
    25 유경훈 A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases    

    07 ... 연휴 
    07 ... 연휴 
    14 박호경 Sparse whole genome sequencing identifies two loci for major depressive disorder    
    14 김주연 Multidisciplinary model to implement pharmacogenomics at the point of care    
    21 서명의 Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy    
    21 박지연 Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer    
    28 서희원 Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes    
    28 이정훈 MR Imaging Radiomics Signatures for Predicting the Risk of Breast Cancer Recurrence as Given by Research Versions of MammaPrint, Oncotype DX, and PAM50 Gene Assays    

    02 김형준 Opening the Duke electronic health record to apps: ImplementingSMART on FHIR    
    02 윤선민 Common sequence variants affect molecular function more than rare variants?    
    09 임영균 Integrative clinical genomics of metastatic cancer    
    09 유경훈 The druggable genome and support for target identification and validation in drug development    
    16 김민정 Identification of prognostic genes through expression differentiation during metastatic process in lung adenocarcinoma    
    16 김기태 Using Clinical Characteristics to Identify Which Patients With Major Depressive Disorder Have a Higher Genetic Load for Three Psychiatric Disorders    
    23 류영재 Global profiling of alternative RNA splicing events provides insights into molecular differences between various types of HCC    
    23 민병주 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer- Associated Genes in Families Affected by Breast Cancer    
    30 ... TBC 
    30 ... TBC 

    05 서희원 Genetic diagnosis of Mendelian disorders via RNA sequencing    
    05 박지연 RNA splicing is a primary link between genetic variation and disease    
    12 서명의 Evaluating the clinical validity of gene-disease associations an evidence-based framework developed by the clinical genome resource    
    12 이정훈 Measuring intratumor heterogeneity by network entropy using RNA-seq data    
    19 이우승 A Zoom Focus algorithm to locate the optimal testing region for rare variant association tests    
    19 김효정 Signal Detection of Imipenem Compared to Other Drugs from Korea Adverse Event Reporting System Database    
    26 박유미 Gene family information facilitates variant interpretation and identification of disease associated genes    
    26 권호식 Burden of Nonsynonymous Mutations among TCGA Cancers and Candidate Immune Checkpoint Inhibitor Responses    

    01 박유미 An Expanded View of Complex Traits: From Polygenic to Omnigenic    
    01 김기태 AACR Project GENIE: Powering Precision Medicine Through An International Consortium    
    08 유경훈 Semantic prioritization of novel causative genomic variants    
    08 임영균 A global genetic interaction network maps a wiring diagram of cellular function    
    15 윤선민 Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation    
    15 김형준 Automated integration of continuous glucose monitor data in the electronic health record using consumer technology    
    22 김주연 Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cas    
    22 박호경 Meta-analysis of effects of ABCB1 polymorphisms on clopidogrel response among patients with coronary artery disease    
    29 민병주 Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility    
    29 류영재 Disease variants alter transcription factor levels and methylation of their binding sites    

    03 박지연 Dissecting the multicellular ecosystem of metastatic melanoma by single-cell RNA-seq    
    03 송유림 A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK    
    10 김혜현 Back on Track: A Mobile App Observational Study Using Apple ResearchKit Framework    
    10 서희원 Pharmacogenomic variants have larger effect sizes than genetic variants associated with other dichotomous complex traits.    
    17 이정훈 Supporting precision medicine by data mining across multi-disciplines: an integrative approach for generating comprehensive linkages between single nucleotide variants (SNVs) and drug-binding sites    
    17 이우승 Mutational landscape of matastatic cancer revealed from prospective clinical sequencing of 10,000 patients    
    24 박지혜 Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing     
    24 김효정 The Drug Data to Knowledge Pipeline: Large-Scale Claims Data Classification for Pharmacologic Insight    

    06 unknown  
    06 unknown  
    13 박호경 Genetic Polymorphisms Contribute to the Individual Variations of Imatinib Plasma Levels and ADR in Chinese GIST    
    13 김기태 Pathway-Structured Predictive Model for Cancer Survival Prediction: A Two-Stage Approach    
    20 류영재 RNA sequence context effects measured in vitro predict in vivo protein binding and regulation    
    20 민병주 Tumor-suppressor genes that escape from X-inactivation contribute to cancer sex bias    
    27 김주연 Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration-experience from a pediatric tertiary care facility    
    27 서명의 A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding    

    01 김혜현 Successful weight reduction and maintenance by using a smartphone application in those with overweight and obesity    
    01 이정훈 Network perturbation by recurrent regulatory variants in cancer    
    08 서희원 Rare and low-frequency coding variants alter human adult height    
    08 이계화 A systematic approach to the reporting of medically relevant findings from whole genome sequencing    
    15 김효정 The other side of the coin: Harm due to the non-use of health-related data    
    15 이우승 Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data    
    22 윤선민 SPATIAL: A System-level PAThway Impact AnaLysis approach    
    22 김형준 C3-PRO. Connecting ResearchKit to the Health System Using i2b2 and FHIR    
    29 유경훈 Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites    
    29 임영균 Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine    

    04 류영재 WT U2AF1 Antagonizes the Splicing Program Characteristic of U2AF1 mutant tumors    
    04 민병주 InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines    
    11 김주연 Clinical impact of pharmacogenetic profiling with a clinical decision support tool in polypharmacy home health patients: A prospective pilot randomized controlled trial    
    11 서명의 Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome    
    18 박지연 Comprehensive analyses of tumor immunity: implications for cancer immunotherapy    
    18 송유림 Mutation Detection of Fibroblast Growth Factor Receptor 3 for Infiltrative Hepatocellular Carcinoma by Whole-Exome Sequencing    
    25 박지혜 Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network    
    25 박유미 Characterization of ADME gene variation in 21 populations by exome sequencing    

    04 이수현 Evaluating common data models for use with a longitudinal community registry    
    04 이우승 Massive interstitial copy-neutral loss of heterozygosity as evidence for cancer being a disease of the DNA-damage response    
    11 김효정 Patients, care partners, and shared access to the patient portal: online practices at an integrated health system    
    11 김형준 Metadata Repository for Improved Data Sharing and Reuse Based on HL7 FHIR    
    18 윤선민 Controllability analysis of the directed human protein interaction network identifies disease genes and drug targets    
    18 임영균 Somatic Mutation Patterns in Hemizygous Genomic Regions Unveil Purifying Selection during Tumor Evolution    
    25 김기태 Pathway-based gene signatures predicting clinical outcome of lung adenocarcinoma    
    25 박호경 Circular RNAs and their associations with breast cancer subtypes    

    07 김혜현 Opening the Duke electronic health record to apps: Implementing SMART on FHIR    
    07 이계화 Comparison of Approaches for Heart Failure Case Identification From Electronic Health Record Data    
    14 박유미 The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes    
    14 이정훈 Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response    
    21 서희원 Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study    
    21 홍주영 A novel algorithm for analyzing drug-drug interactions from MEDLINE literature    

    03 이수현 Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder    
    03 류영재 Cancer associated SF3B1 mutatnts recognize otherwise inaccessible cryptic 3 splice sites within RNA secondary structures    
    10 민병주 Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant    
    10 김주연 Identification of causal genes for complex traits    
    17 서명의 Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate    
    17 박지연 The prognostic potential of alternative transcript isoforms across human tumors     
    24 송유림 Increased burden of deleterious variants in essential genes in autism spectrum disorder    
    24 박지혜 The global spectrum of protein-coding pharmacogenomic diversity    
    31 전체 리트릿 
    31 전체 리트릿 

    05 김효정 Clinical reasoning in the context of active decision support during medication prescribing     
    05 이계화 Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing     
    12 이우승 Genome-wide significance testing of variation from single case exomes    
    12 윤선민 A pathway-centric approach to rare variant association analysis    
    19 김형준 SMART on FHIR implemented over i2b2    
    19 박호경 Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study    
    26 임영균 Exploring genetic suppression interactions on a global scale    
    26 김기태 A new correlation clustering method for cancer mutation analysis    

    01 박지연 Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer     
    01 송유림 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer    
    08 박지혜 REVEL: an Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants    
    08 홍주영 How Informative Are Drug-Drug Interactions of Gene-Drug Interactions?    
    22 서희원 Genetic Variation Among 82 Pharmacogenes: The PGRNseq Data From the eMERGE Network     
    22 김혜현 Detecting Unplanned Care From Clinician Notes in Electronic Health Records    
    29 이정훈 ENCAPP: elastic-net-based prognosis prediction and biomarker discovery for human cancers    
    29 박유미 The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes     

    03 임영균 A Network of Conserved Synthetic Lethal Interactions for Exploration of Precision Cancer Therapy    
    03 김형준 ODMedit_ uniform semantic annotation for data integration in medicine based on a public metadata repository    
    10 윤선민 Analysis of protein-coding genetic variation in 60,706 humans    
    10 민병주 Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders    
    24 김주연 The effect of pharmacogenetic profiling with a clinical decision support tool on healthcare resource utilization and estimated costs in the elderly exposed to polypharmacy    
    24 서명의 Parent-of-origin-specific signatures of de novo mutations    

    06 김혜현 Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution    
    06 이정훈 A Landscape of Pharmacogenomic Interactions in Cancer    
    13 김효정 User-driven prioritization of features for a prospective InterPersonal Health Record: Perceptions from the Italian context    
    13 이우승 Protein-structure-guided discovery of functional mutations across 19 cancer types    
    20 이수현 Design considerations, architecture, and use of the Mini-Sentinel distributed data system    
    20 박호경 Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data    
    27 김기태 Identifying overlapping mutated driver pathways by constructing gene networks in cancer.    
    27 류영재 Determination of a Comprehensive Alternative Splicing Regulatory Network and Combinatorial Regulation by Key Factors during EMT    

    02 김기태 An integrative somatic mutation analysis to identify pathways linked with survival outcomes across 19 cancer types    
    02 박지연 SURVIV for survival analysis of mRNA isoform variation     
    09 민병주 Frequency and Complexity of De Novo Structural Mutation in Autism    
    09 김주연 Computational discovery of transcription factors associated with drug response    
    16 류영재 Identification of important lncRNAs and highly recurrent aberrant alternative splicing events in HCC through integrative analysis of multiple RNA Seq datasets    
    16 서명의 Somatic activating mutations in GNAQ and GNA11 are associated with congenital hemangioma    
    23 박지혜 Metabolic Network Prediction of Drug Side Effects    
    23 서희원 Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes.    
    30 박유미 The human gene damage index as a gene-level approach to prioritizing exome variants    
    30 이계화 The genetic architecture of type 2 diabetes    

    04 김효정 Considering complexity in healthcare systems    
    04 윤선민 Network-based in silico drug efficacy screening     
    11 이수현 Detecting Drug Interactions From Adverse-Event Reports: Interaction Between Paroxetine and Pravastatin Increases Blood Glucose Levels    
    11 한지예 Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response.    
    18 김형준 SMART precision cancer medicine a FHIR-based app to provide genomic information at the point of care    
    18 이우승 Modeling local gene networks increases power to detect trans-acting genetic effects on gene expression    
    25 임영균 Characterizing genomic alterations in cancer by complementary functional associations    
    25 박호경 genome-wide association study identifies multiple loci for variation in human ear morphology    

    07 박지혜 Genetic Variation among 82 Pharmacogenes: the PGRN-Seq data from the eMERGE Network     
    07 서희원 DIDA: A curated and annotated digenic diseases database     
    21 김혜현 Harnessing person-generated health data to accelerate patient-centered outcomes research: the Crohn’s and Colitis Foundation of America PCORnet Patient Powered Research Network    
    21 이정훈 Integrated Drug Expression Analysis for leukemia: an integrated in silico and in vivo approach to drug discovery    
    28 박유미 Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population    
    28 이계화 Comparison and integration of deleteriousness prediction methods for non synonymous SNVs in whole exome sequencing studies    

    02 한지예 Polymorphisms and phenotypic analysis of Cytochrome P450 3A4 in the Uygur population in northwest China    
    02 김형준 Portal of medical data models information infrastructure for medical research and healthcare    
    09 윤선민 An Ensemble Based Top Performing Approach for NCI-DREAM Drug Sensitivity Prediction Challenge    
    09 임영균 Identification of neutral tumor evolution across cancer types    
    16 김기태 Cancer type-dependent genetic interactions between cancer driver alterations indicate plasticity of epistasis across cell types    
    16 박호경 Effect of malignancy rates on cost-effectiveness of routine gene expression classifier testing for indeterminate thyroid    
    23 류영재 Intron retention is a widespread mechanism of tumor-suppressor inactivation    
    23 민병주 Germline Mutations in Predisposition Genes in Pediatric Cancer    
    30 박지연 A network-based analysis of colon cancer splicing changes reveals a tumorigenesis-favoring regulatory pathway emanating from ELK1    
    30 서명의 De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations    

    05 서희원 Quantifying prion disease penetrance using large population control cohorts     
    05 김현대 SMART on FHIR: a standards-based, interoperable apps platform for electronic health records    
    12 김혜현 An exploratory study using an openEHR 2-level modeling approach to represent common data elements    
    12 이정훈 Erosion of Conserved Binding Sites in Personal Genomes Points to Medical Histories    
    19 박유미 Personalized Whole-Cell Kinetic Models of Metabolism for Discovery in Genomics and Pharmacodynamics    
    19 이계화 Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach    
    26 김효정 Development, implementation and evaluation of an information model for archetype based user responsive medical data visualization    
    26 이우승 Patterns and functional implications of rare germline variants across 12 cancer types    

    06 한지예 Polymorphic Cytochrome P450 Enzymes (CYPs) and Their Role in Personalized Therapy    
    06 박호경 Association of peroxisome proliferator-activated receptor-gamma gene polymorphisms and gene-gene interaction with asthma risk    
    13 류영재 Identifying adverse drug reactions and drug-induced diseases using network-based drug mapping    
    13 민병주 Timing, rates and spectra of human germline mutation    
    20 김주연 A prognostic model based on readily available clinical data enriched a pre-emptive pharmacogenetic testing program    
    20 박지연 SRSF1-Regulated Alternative Splicing in Breast Cancer    
    27 서명의 Mutations in the transcriptional repressor REST predispose to Wilms tumor    
    27 박지혜 Prediction of drugs having opposite effects on disease genes in a directed network     

    02 unknown 새해복 많이 받으세요. 
    02 unknown Happy New Year 
    09 이계화 The contribution of rare variation to prostate cancer heritability    
    09 임영균 A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing    
    16 unknown NCRC & 연구발표회 
    16 unknown NCRC & 연구발표회 
    23 김혜현 Use of the Blue Button Online Tool for Sharing Health Information: Qualitative Interviews With Patients and Providers    
    23 이우승 Systematic discovery of complex insertions and deletions in human cancers    
    30 김형준 A system to build distributed multivariate models and manage disparate data sharing policies    
    30 윤선민 Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders    

    05 민병주 Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation    
    05 박지연 RNA-Seq of Tumor-Educated Platelets Enables Blood-Based Pan-Cancer, Multiclass, and Molecular Pathway Cancer Diagnostics    
    12 김주연 Making pharmacogenomic-based prescribing alerts more effective: A scenario-based pilot study with physicians    
    12 서명의 Germline heterozygous variants in SEC23B are associated with Cowden Syndrome and enriched in apparently sporadic thyroid cancer    
    19 이정훈 Pan-cancer analysis of the extent and consequences of intratumor heterogeneity    
    19 서희원 BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data     
    26 박유미 Systematic comparison of variant calling pipelines using gold standard personal exome variants    
    26 김현대 A comparison of two Detailed Clinical Model representations: FHIR and CDA    

    07 unknown TBC 2015 
    07 unknown TBC 2015 
    14 임영균 An Evolutionary Approach for Identifying Driver Mutations in Colorectal Cancer    
    14 한지예 Cost-Effectiveness of Combinatorial Pharmacogenomic Testing for Treatment-Resistant Major Depressive Disorder Patients    
    21 윤선민 Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data    
    21 김형준 SMART on FHIR Genomics: Facilitating standardized clinico-genomic apps    
    28 박호경 efficient genotype compression and analysis of large genetic-variation data sets    
    28 류영재 DGIdb 2.0: mining clinically relevant drug-gene interactions    

    10 서희원 GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations    
    10 김혜현 Standardizing data exchange for clinical research protocols and case report forms: An assessment of the suitability of the CDISC ODM    
    17 이정훈 Patient-specific driver gene prediction and risk assessment through integrated network analysis of cancer omics profiles    
    17 김현대 Using electronic health record data to develop inpatient mortality predictive model: Acute Laboratory Risk of Mortality Score (ALaRMS)    
    24 박유미 Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing    
    24 이수현 Feasibility and utility of applications of the common data model to multiple, disparate observational health databases    
    31 이계화 The UK10K project identifies rare variants in health and disease     
    31 이우승 Age-related mutations associated with colnal hemtopoietic expansion and malignancies    

    05 박호경 Single-cell messenger RNA sequencing reveals rare intestinal cell types    
    05 류영재 Achieving high-sensitivity for clinical applications using augmented exome sequencing    
    12 민병주 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling    
    12 김주연 Electronic health record design and implementation for pharmacogenomics: a local perspective    
    19 서명의 Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer    
    19 박지혜 The support of human genetic evidence for approved drug indications     

    01 김효정 Associations between healthcare quality and use of electronic health record functions in ambulatory care    
    01 이우승 Recurrent somatic mutations in regulatory regions of human cancer genomes    
    08 이수현 Similarity-Based Modeling Applied to Signal Detection in Pharmacovigilance    
    08 한지예 Cost-effectiveness of one-time genetic testing to minimize lifetime adverse drug reactions    
    22 김형준 Semantic enrichment of clinical models towards semantic interoperability The heart failure summary use case.    
    22 윤선민 Human symptoms-disease network    
    29 임영균 Co-occurring Genomic Alterations Define Major Subsets of KRAS-Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities    
    29 김기태 Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas    

    11 이정훈 Integration of somatic mutation, expression, and functional data reveals potential driver genes predictive of breast cancer survival    
    11 김혜현 Development, implementation, and initial evaluation of a foundational open interoperability standard for oncology treatment planning and summarization    
    18 서희원 Genome-wide patterns and properties of de novo mutations in humans     
    18 김현대 Clinical decision support for atypical orders: detection and warning of atypical medication orders submitted to a computerized provider order entry system    
    25 박유미 Whole-genome sequence variation, population structure and demographic history of the Dutch population    
    25 이계화 Factors influencing success of clinical genome sequencing across a broad spectrum of disorders    

    13 김기태 Somatic mutations in arachidonic acid metabolism pathway genes enhance oral cancer post-treatment disease-free survival     
    13 김주연 Adoption of a clinical PGx implementation program during outpatient care--initial results of the University of Chicago “1,200 Patients Project”    
    20 민병주 Cancer genomics: one cell at a time    
    20 류영재 DSigDB: Drug Signatures Database for Gene Set Analysis    
    27 서명의 Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome    
    27 박지혜 Ranking Adverse Drug Reactions With Crowdsourcing    

    02 박유미 Genetic Diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data    
    02 김현대 Transformation of standardized clinical models based on OWL technologies: from CEM to OpenEHR archetypes    
    09 이정훈 Improved data analysis for the MinION nanopore sequencer    
    09 이수연S Disease Risk Factors Identified Through Shared Genetic Architecture and Electronic Medical Records    
    16 이계화 Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease    
    16 임영균 Assessing the clinical utility of cancer genomic and proteomic data across tumor types    
    23 윤선민 Large scale exploration and analysis of drug combinations    
    23 김형준 Lessons learned in detailed clinical modeling at Intermountain Healthcare    
    30 이수현 Systems Pharmacology Augments DrugSafety Surveillance    
    30 이우승 Characterization and identification of hidden rare variants in the human genome    

    04 김기태 Uncovering disease-disease relationships through the incomplete interactome    
    04 류영재 SFINX - a drug-drug interaction database designed for clinical decision support systems    
    11 민병주 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas    
    11 김주연 Economic evaluation of a pharmacogenetic dosing algorithm for coumarin anticoagulants in The Netherlands     
    18 서명의 A recurrent mutation in PARK2 is associated with familial lung cancer    
    18 박지혜 Development of a broad-based ADME panel for use in pharmacogenomic studies     
    25 서희원 Drug2Gene: an exhaustive resource to explore effectively the drug-target relation network.    
    25 김혜현 A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research    

    07 이수연S How common are drug and gene interactions? Prevalence in a sample of 1143 patients with CYP2C9, CYP2C19 and CYP2D6 genotyping    
    07 박유미 Ethnic specific associations of rare and low frequency DNA sequence variants with asthma    
    14 이계화 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.    
    14 이우승 DNA methylation age of human tissues and cell types    
    21 이수현 Medication-wide association studies    
    21 김형준 Ontology-Based Data Integration between Clinical and Research Systems    
    28 윤선민 Human Genome Variation and the Concept of Genotype Networks    
    28 임영균 A method for calculating probabilities of fitness consequences for point mutations across the human genome    

    07 김주연 PG4KDS: A Model for the Clinical Implementation of Pre-Emptive Pharmacogenetics    
    07 박지혜 The CYP2D6 Activity Score: Translating Genotype Information into a Qualitative Measure of Phenotype    
    14 서희원 Whole-genome sequencing of quartet families with autism spectrum disorder    
    14 김현대 Sharing behavioral data through a grid infrastructure using data standards    
    28 김혜현 Multi-source development of an integrated model for family health history    
    28 이정훈 Identification of mutated core cancer modules by integrating somatic mutation, copy number variation, and gene expression data    

    03 이수현 Automatic identification of methotrexate-induced liver toxicity in patients with rheumatoid arthritis from the electronic medical record    
    03 김형준 Multilingual Medical Data Models in ODM Format    
    10 이계화 Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence     
    10 윤선민 The role of the interactome in the maintenance of deleterious variability in human populations    
    17 엄세인 Trait-Associated SNPs Are More Likely to Be eQTLs. Annotation to Enhance Discovery from GWAS    
    17 류영재 In silico comparative characterization of pharmacogenomic missense variants    
    24 임영균 Pan-cancer network analysis identifies combinations of rare somatic mutations across pathways and protein complex     
    24 김기태 Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss    
    31 민병주 Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease    
    31 서명의 TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis    

    06 안선주 Systematic analysis of noncoding somatic mutations and gene expression alterations across 14 tumor types    
    06 서명의 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease    
    13 김주연 Development and use of active clinical decision support for preemptive pharmacogenomics    
    13 서희원 HTSeq-a Python framework to work with high-throughput sequencing data    
    20 김현대 A multi-technique approach to bridge electronic case report form design    
    20 김혜현 Are Meaningful Use Stage 2 certified EHRs ready for interoperability? Findings from the SMART C-CDA Collaborative    
    27 박유미 Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome    
    27 이우승 Mutational heterogeneity in cancer and the search for new cancer-associated genes    

    01 백수연 Personalized pharmacogenomics profiling using whole-genome sequencing    
    01 박지혜 Korean, Japanese, and Chinese populations featured similar genes encoding drug-metabolizing enzymes and transporters: a DMET Plus microarray assessment    
    08 윤선민 Distribution and medical impact of loss-of-function variants in the Finnish founder population    
    08 임영균 Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene    
    15 엄세인 Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing    
    15 류영재 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals    
    22 임재현 Interpretation of Genomic Variants Using a Unified Biological Network Approach    
    22 이계화 Uncovering the Hidden Risk Architecture of the Schizophrenias: Confirmation in Three Independent Genome-Wide Association Studies    
    29 김기태 Multiplatform analysis of 12 cancer types reveals molecular classification within and across tissues of origin    
    29 민병주 Refining analyses of copy number variation identifies specific genes associated with developmental delay    

    04 서희원 A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.    
    04 박유미 Breast Cancer Risk in Families with Mutations in PALB2    
    11 이수연S Pharmacogenomic characterization of gemcitabine response – a framework for data integration to enable personalized medicine    
    11 이우승 Genome-wide analysis of noncoding regulatory mutations in cancer    
    18 이수현 The U.S. Food and Drug Administration’s Mini-Sentinel program: status and direction    
    18 김형준 Procurement of shared data instruments for Research Electronic Data Capture (REDCap)    

    06 임영균 Predicting Cancer-Specific Vulnerability via Data-Driven Detection of Synthetic Lethality    
    06 김기태 Integrative and comparative genomic analysis of HPV-positive and HPV-negative head and neck squamous cell carcinomas    
    13 민병주 Molecular defects in the factor X gene caused by novel heterozygous mutations    
    13 서명의 A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia    
    20 김주연 Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems    
    20 박지혜 Increased genetic diversity of ADME genes in African Americans compared with their putative ancestral source populations and implications for Pharmacogenomics     
    27 김현대 Modular design, application architecture, and usage of a self-service model for enterprise data delivery: The Duke Enterprise Data Unified Content Explorer (DEDUCE)    
    27 김혜현 Computing Health Quality Measures Using Informatics for Integrating Biology and the Bedside    

    02 김혜현 Multi-Institutional Sharing of Electronic Health Record Data to Assess Childhood Obesity    
    02 서희원 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience    
    09 김현대 Automated UMLS-Based Comparison of Medical Forms 
    09 백수연 Network Characteristic Analysis of ADR-related Proteins and Identification of ADR-ADR Associations    
    16 박유미 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer    
    16 김주연 Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol    
    23 이우승 Deep RNA sequencing Reveals dynamic regulation of myocardial noncoding rnas in failing human heart and remodeling with mechanical circulatory support 
    23 이수연S Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset     
    30 임재현 Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease 
    30 이계화 Comprehensive molecular characterization of gastric adenocarcinoma 

    05 고인석 Personal health records: a randomized trial of effects on elder medication safety    
    05 김기태 Network-based stratification of tumor mutations    
    12 민병주 Whole-genome DNA methylation profiling using MethylCap-seq    
    12 안선주 Integrated RNA and DNA sequencing improves mutation detection in low purity tumors    
    19 박지혜 Using Multiplexed Assays of Oncogenic Drivers in Lung Cancers to Select Targeted Drugs 
    19 서명의 Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation    
    26 김주연 Computational Drug Repositioning: From Data to Therapeutics    
    26 서희원 ISMB_Review: MicroRNA-Gene Association As a Prognostic Biomarker in Cancer Exposes Disease Mechanisms    
    26 김기태 ISMB review : Simultaneously identification of multiple driver pathways in cancer 
    26 박지혜 ISMB review : A-to-I RNA editing occurs at over a hundred million genomic sites, located in a majority of human genes    
    26 임재현 Primate Transcript and Protein Expression Levels Evolve Under Compensatory Selection Pressures 
    26 임영균 ISMB review: Dissecting cancer heterogeneity with a probabilistic genotype-phenotype model    

    07 김혜현 Toward Enhanced Pharmacovigilance using Patient-Generated Data on the Internet  
    07 박유미 Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy    
    14 백수연 Integrating Systems Biology Sources Illuminates Drug Action    
    14 임재현 Heritability and genomics of gene expression in peripheral blood 
    21 이수연S Clinical Interpretation and Implications of Whole-Genome Sequencing  
    21 이우승 Association Between BRAF V600E Mutation and Mortality in Patients With Papillary Thyroid Cancer 
    28 이계화 Prioritizing Diesase-Linked Variants, Genes, and Pathways with an Integrative Whole-Genome Analysis Pipeline    
    28 임영균 A general framework for estimating the relative pathogenicity of human genetic variants.    

    03 김기태 Integrative and Comparative Genomic Analysis of Lung Squamous Cell Carcinomas in East Asian Patients    
    03 민병주 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP    
    10 안선주 Technical Variations in Low-Input RNA-seq Methodologies    
    10 서명의 Loss-of-function mutations in SLC30A8 protect against type 2 diabetes    
    17 박지혜 Allelic expression of deleterious protein-coding variants across human tissues  
    17 김주연 Optimizing Drug Outcomes through Pharmacogenetics: a Case for Preemptive genotyping    
    24 서희원 Personalized genomic disease risk of volunteers    
    24 김현대 Presentation of clinical laboratory results 

    05 김혜현 Using ontology-based annotation to profile disease research    
    05 이수연S Inconsistency in large pharmacogenomic studies    
    12 이수현 Dose-specific adverse drug reaction identification in electronic patient records: temporal data mining in an inpatient psychiatric population.    
    12 백수연 Systematic identification of genomic markers of drug sensitivity in cancer cells    
    19 임재현 Understanding mechanisms underlying human gene expression variation with RNA sequencing    
    19 이계화 Identification of potential synthetic lethal genes to p53 using a computational biology approach    
    26 임영균 Identification of synthetic lethal pairs in biological systems through network information centrality    
    26 고인석 Cross-domain targeted ontology subsets for annotation: The case of SNOMED CORE and RxNorm    

    08 고인석 Automated Mapping of Pharmacy Orders from Two Electronic Health Record Systems to RxNorm within the STRIDE Clinical Data Warehouse    
    08 김기태 Comprehensive identification of mutational cancer driver genes across 12 tumor types    
    15 민병주 A Higher Mutational Burden in Females Supports a ‘‘Female Protective Model’’ in Neurodevelopmental Disorders    
    15 안선주 A comprehensive evaluation of normalization methods for Illumina high-throughput RNA sequencing data analysis    
    22 서명의 Using Whole-Exome Sequencing to Identify Inherited Causes of Autism    
    22 박지혜 Clinically Actionable Genotypes Among 10,000 Patients With Preemptive Pharmacogenomic Testing 
    29 김주연 DGIdb: mining the druggable genome    
    29 서희원 Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease    

    15 이계화 InSiGHT    
    15 임영균 Discovery and saturation analysis of cancer genes across 21 tumour types    

    04 이수연S Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci    
    04 김혜현 Development and evaluation of an ensemble resource linking medications to their indications    
    18 서희원 Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study    
    18 이수현 Phenotyping for patient safety: algorithm development for electronic health record based automated adverse event and medical error detection in neonatal intensive care    
    25 백수연 A Structure-Based Approach for Mapping Adverse Drug Reactions to the Perturbation of Underlying Biological Pathways    
    25 임재현 Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard 

    07 이계화 Tracking the clonal origin of lethal prostate cancer    
    07 임영균 Integrative annotation of variants from 1092 humans: application to cancer genomics.    
    14 고인석 Normalization and standardization of electronic health records for high-throughput phenotyping: the SHARPn consortium    
    14 안선주 Finding the active genes in deep RNA-seq gene expression studies    
    21 민병주 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability    
    21 김기태 Mutational landscape and significance across 12 major cancer types 
    28 서명의 Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes    
    28 박지혜 PubChem BioAssay : 2014 update    

    02 서명의 A new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion    
    02 민병주 Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders    
    09 안선주 Comprehensive evaluation of differential gene expression analysis methods for RNA-seq data    
    09 박지혜 Systematic Pharmacogenomics Analysis of Malay Whole Genome : Proof of Concept for Personalized Medicine    
    16 이수연S Pathway analysis of genome-wide data improves warfarin dose prediction    
    16 김혜현 A method for inferring medical diagnoses from patient similarities    
    23 임재현 Altering physiological networks using drugs: steps towards personalized physiology 
    23 이수현 Harvest: an open platform for developing web-based biomedical data discovery and reporting applications    
    30 백수연 The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system    
    30 서희원 canSAR: an integrated cancer public translational research and drug discovery resource    

    05 이수현 Dictionary construction and identification of possible adverse drug events in Danish clinical narrative text. 
    05 이수연S Analytical and simulation methods for estimating the potential predictive ability of genetic profiling: a comparison of methods and results    
    12 백수연 Predicting Adverse Drug Reactions Using Publicly Available PubChem BioAssay Data    
    12 임재현 Transcriptome and genome sequencing uncovers functional variation in humans  
    19 임영균 Discovery Analysis of TCGA Data Reveals Association between Germline Genotype and Survival in Ovarian Cancer Patients 
    19 이계화 Deleterious- and disease-allele prevalence in healthy individuals insights from current predictions, mutation databases, and population-scale resequencing.    
    26 고인석 Utilizing RxNorm to support practical computing applications: Capturing medication history in live electronic health records    
    26 김기태 Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome 

    07 고인석 Evaluating standard terminologies for encoding allergy information    
    07 김기태 DrGaP: A Powerful Tool for Identifying Driver Genes and Pathways in Cancer Sequencing Studies    
    14 서명의 Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss    
    14 민병주 Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing    
    28 서희원 Signatures of mutational processes in human cancer    
    28 김혜현 Normalized names for clinical drugs: RxNorm at 6 years    

    03 박이영  
    03 서명의 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas    
    10 김혜현 The feasibility of QR-code prescription in Taiwan    
    10 이수연S Variations in predicted risks in personal genome testing for common complex diseases    
    17 이수현 Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk    
    17 임재현 Structure of Protein Interaction Networks and Their implications on Drug Design 
    24 서희원 The Exomes of the NCI-60 Panel: A Genomic Resource for Cancer Biology and Systems Pharmacology    
    24 백수연 Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations    
    31 이계화 MI-ONCOSEQ_1    
    31 임영균  

    06 이계화 Total and Regional Adiposity and cognitive change in older adults -The Health, aging and body composition(ABC) study    
    06 임영균 CpG island shore methylation regulates caveolin-1 expression in breast cancer      
    20 고인석 Mapping Partners Master Drug Dictionary to RxNorm using an NLP-based approach 
    20 김기태 Comprehensive molecular characterization of clear cell renal cell carcinoma 
    27 임재현 Target Essentiality and Centrality Characterize Drug Side Effects 
    27 민병주 Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing    

    01 박이영 Evolution of the cancer genome 
    01 김기태 integrated genomic characterization of endometrial carcinoma 
    08 서명의 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration    
    08 민병주 Exome sequencing supports a de novo mutational paradigm for schizophrenia    
    15 정용 Discovery of Stress Responsive DNA Regulatory Motifs in Arabidopsis    
    15 김혜현 A corpus-based approach for automated LOINC mapping 
    22 이수연S Annotation of functional variation in personal genomes using RegulomeDB.     
    22 이수현 Performance of pharmacovigilance signal-detection algorithms for the FDA adverse event reporting system.    
    29 백수연 Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel    
    29 박이영 The Life History of 21 Breast Cancers    

    04 백수연 Literature Based Drug Interaction Prediction with Clinical Assessment Using Electronic Medical Records: Novel Myopathy Associated Drug Interactions     
    04 임재현 An Integrated Approach to Uncover Drivers of Cancer 
    11 임영균 DNA co-methylation analysis suggests novel functional associations between gene pairs in breast cancer samples    
    11 서희원 Comprehensive genomic characterization defines human glioblastoma genes and core pathways    
    25 고인석 The ISO/IEC 11179 norm for metadata registries: Does it cover healthcare standards in empirical research?    
    25 이계화 Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia 

    06 박이영 Risk Prediction of Complex Diseases from Family History and Known Susceptibility Loci, with Applications for Cancer Screening    
    06 임재현  
    13 서명의 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA     
    13 민병주 Germline BAP1 mutations predispose to malignant mesothelioma     
    20 서희원 Personalized Pathway Enrichment Map of Putative Cancer Genes from Next Generation Sequencing Data    
    20 김혜현 SHRINE: Enabling Nationally Scalable Multi-Site Disease Studies    
    27 이수연S Cancer GAMAdb: database of cancer genetic associations from meta-analyses and genome-wide association studies    
    27 이수현 Pharmacovigilance Using Clinical Notes.    

    02 서희원 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants    
    02 김혜현 Lifelog Data Model and Management: Study on Research Challenges    
    09 이수연S SNPranker 2.0: a gene-centric data mining tool for diseases associated SNP prioritization in GWAS.    
    09 이수현 Enhancing Adverse Drug Event Detection in Electronic Health Records Using Molecular Structure Similarity:Application to Pancreatitis  
    16 백수연 SNAP: predict effect of non-synonymous polymorphisms on function    
    16 임재현 Genomic Variation landscape of the human gut microbiome     
    23 이계화 A method for identifying biomarkers of aging and constructing an index of biological age in humans    
    23 정용 Functional characterization of motif sequences under purifying selection    
    30 임영균 Identification of markers associated with global changes in DNA methylation regulation in cancers      
    30 고인석 The effect of electronic medical record system sophistication on preventive healthcare for women 

    02 정용 Functional Characterization of Transcription Factor Motifs Using Cross-species Comparison across Large Evolutionary Distances    
    02 Alexander A gene ontology inferred from molecular networks      
    09 윤준희 GenePING : secure, scalable management of personal genomic data 
    09 김도균 ATHENA A tool for meta-dimensional analysis applied to genotypes and gene expression data to predict HDL cholesterol levels    
    23 나영지 Disease-related mutations predicted to impact protein function 
    23 조용래 PASTE: patient-centered SMS text tagging in a medication management system    

    05 정용 Contribution of Transcription Factor Binding Site Motif Variants to Condition-Specific Gene Expression Patterns in Budding Yeast    
    05 서희원 Performance comparison of whole-genome sequencing platforms    
    12 이수연S DARNED: a DAtabase of RNa EDiting in humans    
    12 정제균 CAERUS: Predicting CAncER oUtcomeS Using Relationship between Protein Structural Information, Protein Networks, Gene Expression Data, and Mutation Data    
    19 이수현 The EU-ADR Web Platform: delivering advanced pharmacovigilance tools.     
    19 백수연 Prediction of Drug-Target Interactions and Drug Repositioning via Network-Based Inference    
    26 임재현 lincRNA Disease association 
    26 이계화 Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing    

    01 이계화 A novel, privacy-preserving cryptographic approach for sharing sequencing data.    
    01 이수현 Comparative analysis of pharmacovigilance methods in the detection of adverse drug reactions using electronic medical records    
    08 강병희 Integration of External signaling Pathways with the Core Transctriptional Network in Embryonic Stem Cells 
    08 김혜현 Federated ontology-based queries over cancer data 
    15 손경아 Tissue of origin determines cancer-associated CpG island promoter hypermethylation patterns    
    15 Alexander Associating Genes and Protein Complexes with Disease via Network Propagation      
    22 나영지 Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing    
    22 윤준희 Atlas2 Cloud: a framework for personal genome analysis in the cloud    
    29 조용래 A pragmatic method for electronic medical record-based observational studies - developing an electronic medical records retrieval system for clinical research    
    29 김도균 PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations    

    03 김도균 PARADIGM-SHIFT predicts the function of mutations in multiple cancers using pathway impact analysis    
    03 조용래 The Biomedical Resource Ontology (BRO) to enable resource discovery in clinical and translational research    
    10 서희원 In silico blood genotyping from exome sequencing data    
    10 김혜현 Clinical documentation: composition or synthesis?    
    17 이수연S Subnetwork-based analysis of chronic lymphocytic leukemia identi&    
    17 정제균 An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people    
    24 임재현 Alternative isoform regulation in human tissue transcriptomes    
    24 백수연 Large-scale prediction and testing of drug activity on side-effect targets    

    06 강병희 the genetic landscape of a cell    
    06 임재현 Encode(2) : Landscape of transcription in human cells     
    13 전체 TBC 
    13 전체 TBC 
    20 이계화 A framework for evaluating the appropriateness of clinical decision support alerts and reponses    
    20 손경아 Comparative analysis of somatic copy-number alterations across different human cancer types reveals two distinct classes of breakpoint hotspots 
    27 임재현 Analysis and design of RNA sequencing experiments for identifying isoform regulation(MISO)    
    27 나영지 Linking disease associations with regulatory information in the human genome    

    01 김도균 Comprehensivemolecular characterization of human colon and rectal cancer    
    01 임재현 Chromatin organization is a major influence on regional mutation rates in human cancer cells     
    08 김혜현 Portability of an algorithm to identify rheumatoid arthritis in electronic health records    
    08 이수연S How accurate can genetic predictions be?    
    15 정제균 Patterns and rates of exonic de novo mutations in autism spectrum disorders    
    15 이수현 Development and evaluation of a common data model enabling active drug safety surveillance using disparate healthcare databases    
    22 백수연 Identification of chemogenomic features from drug-target interaction networks using interpretable classifiers.    
    22 정용 Construction of regulatory networks using expression time-series data of a genotyped population    

    04 조용래 Emerging Patient-Driven Health Care Models: An Examination of Health Social Networks, Consumer Personalized Medicine and Quantified Self-Tracking    
    04 나영지 The CancerCell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity    
    11 강병희 ISMB Review 
    11 임재현 ISMB Review 
    18 서희원 Highly interconnected genes in disease-specific networks are enriched for disease-associated polymorphisms    
    18 윤준희 Identifying aberrant pathways through integrated analysis of knowledge in pharmacogenomics    
    25 나영지 Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes    
    25 강병희 The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups    

    07 김혜현 An i2b2-based, generalizable, open source, self-scaling chronic disease registry    
    07 이수연S REGENT: a risk assessment and classi&    
    21 정제균 Personalized Pathway Enrichment Map of Putative Cancer Genes from Next Generation Sequencing Data    
    21 이수현 Large-scale prediction of adverse drug reactions using chemical, biological, and phenotypic properties of drugs    
    28 백수연 ranking of multidimensional drug profiling data by fractional adjusted bi-partitional scores    
    28 이계화 Variation in Patient-Sharing Networks of Physicians Across the United States    

    02 김경화 Behavior-specific changes in transcriptional modules lead to distinct and predictable neurogenomic states    
    02 강병희 Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses     
    09 임재현 Transcriptomic analysis of autistic brain reveals convergent molecular pathology    
    09 이계화 Operational implementation of Prospective Genotyping for Personalized Medicine: The Design of the Vanderbilt PREDICT Project    
    16 정용 Clustering of DNA Sequences in Human Promoters    
    16 백수연 A pharmacogenomic method for individualized prediction of drug sensitivity    
    23 임재현 Differential expression in RNA-seq:A matter of depth    
    23 김도균 A Mathematical Methodology for Determining the Temporal Order of Pathway Alterations Arising during Gliomagenesis    
    30 조용래 Automated discovery of drug treatment patterns for endocrine therapy of breast cancer within an electronic medical record    
    30 서희원 A high-resolution map of human evolutionary constraint using 29 mammals    

    12 이수연S Microarray meta-analysis database (M2DB): a uniformly pre-processed, quality controlled, and manually curated human clinical microarray database    
    12 정제균 Transcriptomic landscape of breast cancers through mRNA sequencing    
    19 이수현 High-priority drug-drug interactions for use in electronic health records    
    19 윤준희 Interpretome: A Freely available, modular, and secure personal genome interpretation engine     

    07 김도균 Mutual exclusivity analysis identifies oncogenic network modules    
    07 김혜현 The SMART Platform: early experience enabling substitutable applications for electronic health records    
    14 윤준희 PSB Review 
    14 김혜현 AMIA Review 
    21 나영지 Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes    
    21 조용래 Serving the enterprise and beyond with informatics for integrating biology and the bedside    
    28 박유랑 Quality evaluation of value sets from cancer study common data elements using the UMLS semantic groups    
    28 서희원 Detecting and annotating genetic variations using the HugeSeq pipeline.    

    03 조용래 An Environment-Wide Association Study (EWAS) on Type 2 diabetes    
    03 김혜현 Social but safe? Quality and safety of diabetes-related online social networks    
    10 서희원 A Combination of Dopamine Genes Predicts Success by Professional Wall Street Traders    
    10 정제균 A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes    
    17 박유랑 Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus    
    17 이수연S Content-based microarray search using differential expression profiles    
    24 이수현 Data-Driven Prediction of Drug Effects and Interactions    
    24 백수연 Systematic Drug Repositioning Based on Clinical Side-Effects    
    31 김경화 Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing    
    31 윤준희 A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data    

    04 정희준 CancerResource: a comprehensive database of cancer-relevant proteins and compound interactions supported by experimental knowledge    
    04 백수연 FusionMap : detecting fusion genes from next-generation sequencing data at base-pair resolution    
    18 이수연 Systematic detection of putative tumor suppressor genes through the combined use of exome and transcriptome sequencing    
    18 윤준희 Using text to build semantic networks for pharmacogenomics    
    25 나영지 Exome Sequencing Reveals DNAJB6 Mutations in Dominantly Inherited Myopathy    
    25 김도균 Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer    

    07 나영지 Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease    
    07 김도균 Integrative network analysis to identify aberrant pathway networks in ovarian cancer    
    14 조용래 Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the CCR standard    
    14 이수현 Predicting Adverse Drug Events Using Pharmacological Network Models     
    20 윤선민 A Network-Based Approach to Prioritize Results from Genome-Wide Association Studies     
    20 김혜현 Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study    
    28 이수연S Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson Disease     
    28 정제균 Defining the Role of Essential Genes in Human Disease    

    03 김혜현 BioPortal: enhanced functionality via new Web services from the National Center for Biomedical Ontology to access and use ontologies in software applications    
    03 이수연S Modelling schizophrenia using human induced pluripotent stem cells    
    10 정제균 Protein localization as a principal feature of the etiology and comorbidity of genetic diseases    
    10 서희원 Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence    
    17 윤준희 Assessing Vaccination Sentiments with Online Social Media: Implications for Infectious Disease Dynamics and Control    
    17 백수연 Network neighbors of drug targets contribute to drug side-effect similarity    
    24 정희준 PROMISCUOUS: a database for network-based drug-repositioning    
    24 김지훈 SNPedia: a wiki supporting personal genome annotation, interpretation and analysis    
    31 이수연 SeqGene a comprehensive software solution for mining exome- and transcriptome- sequencing data    
    31 박유랑 Validation of a common data model for active safety surveillance research    

    05 박유랑 Integrating clinical research with the Healthcare Enterprise: From the RE-USE 3 project to the EHR4CR platform    
    05 나영지 Prioritizing candidate disease genes by network-based boosting of genome-wide association data    
    19 김도균 Time to recurrence and survival in serous ovarian tumors predicted from integrated genomic profiles    
    19 조용래 Evaluating Relevance Ranking Strategies for MEDLINE Retrieval    
    26 서희원 Predicting phenotypic variation in yeast from individual genome sequences    
    26 윤선민 Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder    

    01 김혜현 Using machine learning for concept extraction on clinical documents from multiple data sources    
    01 이수연S Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.    
    08 정제균 Methyl-Analyzer—whole genome DNA methylation profiling    
    08 이수현 Comparison of a basic and an advanced pharmacotherapy-related clinical decision support system in a hospital care setting in the Netherlands     
    22 윤준희 Generating Genome-Scale Candidate Gene Lists for Pharmacogenomics     
    22 백수연 Discovery of drug mode of action and drug repositioning from transcriptional responses    
    29 정희준 PREDICT: a method for inferring novel drug indications with application to personalized medicine.    
    29 김지훈 Correlated genotypes in friendship networks    

    03 박유랑 Quality Evaluation of Cancer Study Common Data Elements Using the UMLS Semantic Network    
    03 나영지 Exome Sequencing and Unrelated Findings in the Context of Complex Disease Research: Ethical and Clinical Implications    
    17 김도균 A development taxonomy of GBM defined and maintained by microRNAs    
    17 조용래 Genotype Score in addition to common risk factors for prediction of type 2 diabetes    
    24 서희원 S tructural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.    
    24 윤선민 The implications of relationships between human diseases and metabolic subpathways    

    06 김도균 A ten-microRNA expression signature predicts survival in glioblastoma    
    06 김혜현 Sharing Data for Public Health Research by Members of an International Online Diabetes Social Network    
    13 박유랑 Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience    
    13 이수현 Use of primary care electronic medical record database in drug efficacy research on cardiovascular outcomes: comparison of database and randomised controlled trial findings    
    20 정제균 A DNA methylation fingerprint of 1,628 human samples    
    20 이수연S Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals    
    27 김지훈 Automated validation of genetic variants from large databases ensuring that variant references refer to the same genomic locations    
    27 정희준 Discovery and preclinical validation of drug indications using compendia of public gene expression data     

    02 이수현 A novel signal detection algorithm for identifying hidden drug-drug interactions in adverse event reports    
    02 김지훈 The use of VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency    
    16 정희준 Gene-Disease Network Analysis Reveals Functional Modules in Mendelian, Complex and Environmental Diseases    
    16 이수연 MU2A - reconciling the genome and transcriptome to determine the effects of base substitutions    
    23 서희원 Exploring the Genetic Basis of Variation in Gene Predictions with a Synthetic Association Study    
    23 나영지 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis    
    30 윤선민 Obesity related methylation changes in DNA of peripheral blood leukocytes    
    30 조용래 A knowledge discovery and reuse pipeline for information extraction in clinical notes    

    04 나영지 A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions    
    04 조용래 Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk    
    11 서희원 Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia    
    11 정제균 Data Integration Workflow for Search of Disease Driving Genes and Genetic Variants    
    18 박유랑 Data standards for clinical research data collection forms: current status and challenges    
    18 윤선민 Leukocyte DNA methylation signature differentiates pancreatic cancer patients from healthy controls    
    25 김도균 Correlation of somatic mutation and expression identifies genes important in human glioblastoma progression and survival    
    25 이수연S Widespread RNA and DNA Sequence Differences in the Human Transcriptome    

    07 김혜현 The Results Database Update and Key Issues    
    07 이수연S DSGeo: Software tools for cross-platform analysis of gene expression data in GEO     
    14 정제균 ExpEdit: a webserver to explore human RNA editing in RNA-Seq experiments    
    14 이수현 A web-based quantitative signal detection system on adverse drug reaction in china    
    21 김지훈 Global analysis of disease-related DNA sequence variation in 10 healthy individuals: implications for whole genome-based clinical diagnostics    
    21 이수연 miRGator v2.0 : an integrated system for functional investigation of microRNAs    
    28 정희준 CCancer a bird’s eye view on gene lists reported in cancer-related studies     
    28 김혜현 AGUIA: autonomous graphical user interface assembly for clinical trials semantic data services    

    02 정희준 PathLocdb: a comprehensive database for the subcellular localization of metabolic pathways and its application to multiple localization analysis    
    02 김지훈 Improving disease gene prioritization using the semantic similarity of Gene Ontology terms      
    09 이수연 Towards computational prediction of microRNA function and activity    
    09 박유랑 The military health system`s personal health record pilot with Microsoft HealthVault and Google Health    
    16 나영지 A map of human genome variation from population-scale sequencing    
    16 김도균 Detecting Cancer Gene Networks Characterized by Recurrent Genomic Alterations in a Population    
    23 송영수 Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single proced    
    23 조용래 Differentially Expressed RNA from Public Microarray Data Identifies Serum Protein Biomarkers for Cross-Organ Transplant Rejection and Other Conditions    
    30 서희원 Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level.     
    30 윤선민 Metabolic Robustness and Network Modularity: A Model Study    

    05 이수연S A global map of human gene expression    
    05 김혜현 Future Developments of Medical Informatics from the Viewpoint of Networked Clinical Research    
    12 송영수 Cancer Therapy Design Based on Pathway Logic    
    12 윤선민 A sub-pathway-based approach for identifying drug response principal network    
    19 조용래 Whole-Genome Sequencing and Social-Network Analysis of a Tuberculosis Outbreak    
    19 서희원 Discovery of common Asian copy number variants using integrated high-resolution arrayCGH and massively parallel DNA sequencing     
    26 이수현 Comorbidity and repeat admission to hospital for adverse drug reactions in older adults: retrospective cohort study    
    26 정제균 Measuring the Evolutionary Rewiring of Biological Networks    

    12 이수현 a method for encoding clinical datasets with SNOMED-CT     
    12 정희준 Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation    
    19 이수연 Using GOstats to test gene lists for GO term association    
    19 박유랑 NINDS common data element project: a long-awaited breakthrough in streamlining trials.    
    26 나영지 Clinical assessment incorporating a personal genome    
    26 김도균 CNAmet_an R package for integrating copy number, methylation and expression data    

    08 박유랑 Approaching semantic interoperability in Health Level Seven    
    08 강기원 A basic study design for expedited safety signal evaluation based on electronic healthcare data    
    15 윤선민 Biological Process Linkage Networks    
    15 김혜현 The UMLS-CORE project: a study of the problem list terminologies used in large healthcare institutions     
    22 송영수 Association of tissue lineage and gene expression: conservatively and differentially expressed genes define common and special functions of tissues    
    22 이수연S BioPortal: ontologies and integrated data resources at the click of a mouse    
    29 김도균 Large scale data integration framework provides a comprehensive view on glioblastoma multiforme    
    29 정제균 Combining Network Modeling and Gene Expression Microarray Analysis to Explore the Dynamics of Th1 and Th2 Cell Regulation 

    11 정희준 Mutated genes, pathways and processes in tumours    
    11 이수연 miRSel: Automated extraction of associations between microRNAs and genes from the biomedical literature    
    18 나영지 Computational identification of tissue-specific alternative splicing elements in mouse genes from RNA-Seq    
    18 Rocky Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility    

    06 Rocky MicroSNiPer : A Web Tool for Prediction of SNP Effects on Putative microRNA Targets    
    06 박찬희 permGPU: Using graphics processing units in RNA microarray association studies    
    13 송영수 The Human Phenotype Ontology    
    13 윤선민 FMM: a web server for metabolic pathway reconstruction and comparative analysis.    
    20 강기원 Epigenetic Epidemiology of Common Complex Disease: Prospects for Prediction, Prevention, and Treatment    
    27 이수연S Microarray retriever: a web-based tool for searching    
    27 이수현 Adverse Drug Reactions in Hospital In-Patients: A Prospective Analysis of 3695 Patient-Episodes    

    02 김혜현 Heterogeneity prevails: the state of clinical trial data management in Europe - results of a survey of ECRIN centres    
    02 이수연S ArrArrayExpress update from an archive of functional genomics experiments to the atlas of gene expression    
    09 이수현 The Application of an Institutional Clinical Data Warehouse to the Assessment of Adverse Drug Reactions (ADRs)    
    09 박유랑 Scaling the walls of discovery: using semantic metadata for integrative problem solving    
    16 이수연 High-Throughput SuperSAGE for Digital Gene Expression Analysis of Multiple Samples Using Next Generation Sequencing    
    16 정희준 Systematic analysis, comparison, and integration of disease based human genetic association data and mouse genetic phenotypic information    
    30 나영지 CNAseg - a novel framework for identification of copy number changes in cancer from second-generation sequencing data    
    30 김도균 An integrative mutidimensional genetic and epigenetic strategy to identify aberrant genes and pathways in cancer    

    04 이수연 RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays    
    04 나영지 Exome sequencing identifies the cause of a mendelian disorder    
    11 김도균 Integrative clustering of multiple genomic data types using a joint latent variable model with application to breast and lung cancer subtype analysis    
    11 Rocky A Catalog of Polymorphisms Falling in MicroRNA-Binding Regions of Cancer Genes    
    18 박찬희 A standard variation file format for human genome sequences    
    18 송영수 HyBrow: a prototype system for computer-aided hypothesis evaluation    
    25 윤선민 Extending pathways based on gene lists using InterPro domain signatures    
    25 강기원 Identification and evaluation of a possible signal of exacerbation of colitis during rofecoxib treatment, using Prescription-Event Monitoring data    

    07 김혜현 The FDA Critical Path Initiative and Its Influence on New Drug Development    
    07 윤선민 GeneMesh: a web-based microarray analysis tool for relating differentially expressed genes to MeSH terms    
    14 강기원 Mining consequence events in temporal health data    
    14 송영수 Symbolic rule-based classification of lung cancer stages from free-text pathology reports    
    21 이수연S Recent developments in StemBase: a tool to study gene expression in human and murine stem cells.    
    21 이수현 Computerized Surveillance for Adverse Drug Events in a Pediatric Hospital    
    28 정희준 PathText: a text mining integrator for biological pathway visualizations    
    28 박유랑 Supporting Ontology-Based Dynamic Property and Classification in WebSphere Metadata Server    

    03 강기원 Applications in Detecting Adverse Drug Reactions : Applications in Detecting Adverse Drug Reactions    
    03 김혜현 Toward an ontology-based framework for clinical research databases    
    10 박유랑 Semantic web data warehousing for caGrid    
    10 이수연 DSAP : deep-sequencing small RNA analysis    
    17 정희준 MADNet: microarray database network web server    
    17 나영지 ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data    
    24 김도균 Improved Microarray-Based Decision Support with Graph Encoded Interactome Data    
    24 변상재 Pandora, a PAthway and Network DiscOveRy Approach based on common biological evidence    
    31 Rocky Human polymorphism at microRNAs and microRNA target sites    
    31 박찬희 Uniformly curated signaling pathways reveal tissue-specific cross-talks and support drug target discovery    

    05 박유랑 Harmonization of health data at national level: A pilot study in China    
    05 나영지 Deep sequencing reveals differential expression of microRNAs in favorable versus unfavorable neuroblastoma    
    12 김도균 International network of cancer genome projects    
    12 변상재 Fault Tolerance in Protein Interaction Networks: Stable Bipartite Subgraphs and Redundant Pathways    
    19 박찬희 Network-Based Elucidation of Human Disease Similarities Reveals Common Functional Modules Enriched for Pluripotent Drug Targets    
    19 Rocky Genome-Wide Analysis of Small RNA and Novel MicroRNA Discovery in Human Acute Lymphoblastic Leukemia Based on Extensive Sequencing Approach    
    26 송영수 caTIES: a grid based system for coding and retrieval of surgical pathology reports and tissue specimens in support of translational research    
    26 윤선민 PhenoFam-gene set enrichment analysis through protein structural information    

    01 나영지 LookSeq: A browser-based viewer for deep sequencing data    
    01 김도균 IntOGen: integration and data mining of multidimensional oncogenomic data    
    08 변상재 Rare Variants Create Synthetic Genome-Wide Associations    
    08 Rocky Discovery of Novel MicroRNAs in Female Reproductive Tract Using Next Generation Sequencing    
    15 박찬희 Deciphering the splicing code    
    15 송영수 Formulation of a model for automating infection surveillance: algorithmic detection of central-line associated bloodstream infection    
    22 윤선민 HAMSTER: visualizing microarray experiments as a set of minimum spanning trees    
    22 강기원 A strategy for predicting the chemosensitivity of human cancers and its application to drug discovery    
    29 정희준 A Pathway-Based View of Human Diseases and Disease Relationships    
    29 이수연 Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms    

    03 박찬희 The gputools package enables GPU computing in R    
    03 송영수 Statistical search on the Semantic Web    
    17 윤선민 NeAT: a toolbox for the analysis of biological networks, clusters, classes and pathways    
    17 정희준 HPD: an online integrated human pathway database enabling systems biology studies    
    24 이수연 Cepred: Predicting the Co-Expression Patterns of the Human Intronic microRNAs with Their Host Genes    
    24 박유랑 A metadata approach for clinical data management in translational genomics studies in breast cancer.    

    06 윤선민 ConceptGen: a gene set enrichment and gene set relation mapping tool    
    06 정희준 PID: the Pathway Interaction Database    
    13 이수연 MTar: a computational microRNA target prediction architecture for human transcriptome    
    13 박유랑 The Enterprise Data Trust at Mayo Clinic: a semantically integrated warehouse of biomedical data    
    20 나영지 Repertoire of microRNAs in Epithelial Ovarian Cancer as Determined by Next Generation Sequencing of Small RNA cDNA Libraries    
    20 Rocky Ontology-driven indexing of public datasets for translational bioinformatics    
    27 김도균 Integration of clinical and microarray data with kernel methods    
    27 변상재 Large-scale prediction of protein-protein interactions from structures    

    06 나영지 MIRAGAA-a methodology for finding coordinated effects of microRNA expression changes and genome aberrations in cancer    
    06 변상재 Incorporating functional inter-relationships into protein function prediction algorithms    
    20 김도균 Prediction of Human Functional Genetic Networks from Heterogeneous Data Using RVM-Based Ensemble Learning    
    20 Rocky An Analysis of Human MicroRNA and Disease Associations    
    27 박찬희 Multifactor Dimensionality Reduction for Graphics Processing Units Enables Genome-wide Testing of Epistasis in Sporadic ALS    
    27 송영수 An ontological modeling approach to cerebrovascular disease studies: The NEUROWEB case    

    09 변상재 A methodology for the analysis of differential coexpression across the human lifespan    
    09 박찬희 Human gene expression sensitivity according to large scale meta-analysis    
    16 김도균 A statistical framework for genomic data fusion    
    16 Rocky In silico method for systematic analysis of feature importance in microRNA-mRNA interactions    
    23 송영수 Relations in biomedical ontologies    
    23 박유랑 Automated Database Mediation Using Ontological metadata mappings    
    30 이수연 Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts    
    30 정희준 PathCase: pathways database system 

    05 김도균 Exome sequencing identifies the cause of a mendelian disorder    
    05 변상재 Gene set internal coherence in the context of functional profiling    
    12 Rocky