팀:AllSeminarBioEMRxMutantSysBiolMAInfoJ.ClubTopicSemBookReading   발표자: All국수경권호식김민정김재환김지헌민유정부은경안세환유경훈유승원유승원정문경채정환최선최선한봄...AlexanderDesok KimHJInternJee-Young ChoiJee-Young ChoiJee-Young ChoiJee-Young ChoiJee-Young ChoiJee-Young Jasmine CHOIJee-Young Jasmine CHOIJee-Young Jasmine CHOIJee-Young Jasmine Choi KelseyKwangsung AhnMike JacksonNULLNULLNULLNULLNULLNULLNULLNULLNULLPPPrabinRockyabe torkeltonbenhjkyutest강기원강병희강병희강병희강석훈강소영고인석김경화김경화김기태김도균김동호김민구김보성김승빈김승호김영성김영훈김주연김주한김준호김지미김지훈김지희김진환김현대김형준김혜현김효정김효진나영지류영재민병주박원준박유랑박유미박은영박이영박정수박지연박지혜박찬희박호경백수연서명의서희원손경아송영수심재현심재현심혜진안빈안선주양웅철엄세인오가희우정훈윤선민윤영조이계화이수연이수연S이수현이우승이정우이정훈이현임영균임재현임준호전은주정상원정승원정용정태수정해원정희준조성범조용래주경민초빙강연최광윤최윤영최준영한미령한지예한현욱홍승권홍주영황동현源����������臾닿�����理���ㅼ��김기원김미현김세영김예진김옥구김윤희김지훈(H)박지연박지연변상재서화정신용준신현정온정헌윤혜성이석호이영주이정애이혜원임수아안성준권혜진유방암센터유수영유의혁(세종대)이권무황기태unknown세종대외부특강전체정혜림팀원권창혁송유림윤준희정제균   제목/키워드:    날짜:   

07	박유미	Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations
07	안세환	.
14	김효정
14	최선
21	이우승
21	권호식
28	김형준
28	윤선민

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
13	정문경	THE IMPACT OF INTERPERSONAL CLOSENESS CUES IN TEXT-BASED HEALTHCARE CHATBOTS ON ATTACHMENT BOND AND THE DESIRE TO CONTINUE INTERACTING: AN EXPERIMENTAL DESIGN
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
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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
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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
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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