SNUBI Research ::   (192 talks satisfying Presenter = 박유미)
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2024-03:
04 박유미 Updated distribution of UKBB subjects with unclear molecular phenotypes  TopicSem
25 박유미 Real-world evaluation of the clinical benefits of translating pharmacogenomics knowledge included in the CPIC guidelines  TopicSem

2024-02:
15 박유미 CNV calling using SNP array-based genotyping from UK Biobank  TopicSem

2024-01:
18 박유미 CPIC guideline update trends  TopicSem

2023-12:
21 박유미 A brief introduction to 500K UK Biobank exome sequencing data  TopicSem

2023-11:
06 박유미 Toy example to construct human disease genome maps  TopicSem
27 박유미 Association of Ephrin Type-A Receptor 10 gene with reduced risk of cervical insufficiency and preterm birth  TopicSem

2023-10:
12 박유미 Additional evidence supports link between EPHA10 and cervical insufficiency  TopicSem

2023-09:
11 박유미 Preprocessing of PacBio whole genome sequencing data  TopicSem

2023-08:
17 박유미 Research outline of the Human Disease Genome Map construction project  TopicSem

2023-07:
20 박유미 Deciphering sequence-structure-function relationships to predict individual drug-intolerance with minimal uncertainty  TopicSem

2023-06:
01 박유미 Study design to identify candidate genetic variants associated with cervical insufficiency  TopicSem
26 박유미 Investigating gene-pairs contributing to cervical insufficiency  TopicSem

2023-05:
04 박유미 Identification of candidate gene variants associated with cervical insufficiency  TopicSem

2023-04:
10 박유미 Importance of rare pharmacogenomic variants in interpreting drug response  TopicSem

2023-03:
16 박유미 Investigating gene-pairs contributing to sex differences in depression  TopicSem

2023-02:
09 박유미 Real-world data analysis of warfarin dose-associated variants of CYP2C9 and VKORC1 in subjects with unclear molecular phenotypes  TopicSem

2023-01:
05 박유미 Replication study of the association of rs4653328 (EPHA10) with cervical insufficiency  TopicSem

2022-12:
12 박유미 Comparison of average daily drug dose between subjects with unclear molecular phenotypes and non-ambiguous normals  TopicSem

2022-11:
03 박유미 Distribution of unclear molecular phenotypes for genes with published CPIC guidelines in UK Biobank  TopicSem

2020-07:
06 박유미 Genotype Data in UKBiobank  SysBiol
27 박유미 Haplogroup construction for CRIM1 and IL6  TopicSem

2020-06:
13 박유미 Pharmacogenetics at scale: An analysis of the UK Biobank     J.Club
22 박유미 GVB score optimization to reduce neutral variant effects  xMutant
25 박유미 Comparing characteristics between statistical tests and scoring methods  TopicSem

2020-05:
04 박유미 Defining anticoagulant-induced adverse reaction  TopicSem
04 박유미 COVID-19 data in the UK Biobank  SysBiol
11 박유미 Update in UK Biobank data table  xMutant
28 박유미 Distribution of 1KGP subjects with unclear molecular phenotypes for 17 genes with published CPIC guidelines  TopicSem

2020-04:
02 박유미 Protective effect of F10 variants against coronary artery disease in the UK Biobank data  TopicSem
02 박유미 Protective effect of F10 variants against coronary artery disease in the UK Biobank data  TopicSem
11 박유미 Minimal phenotyping yields genome-wide association signals of low specificity for major depression     J.Club

2020-03:
02 박유미 Comparing polygenic risk scores between male and female depressive patients  SysBiol
09 박유미 A complementary strategy to the current patient drug intolerance classification system using massively parallel sequencing results  TopicSem
30 박유미 Ischemic heart disease group extraction from UK Biobank patients  xMutant

2020-02:
15 박유미 GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes      J.Club
20 박유미 Helix UK Biobank browser  xMutant

2020-01:
30 박유미 Stratification of ALL patients at risk for thiopurine-induced toxicity using GVB  TopicSem

2019-12:
07 박유미 Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations     J.Club
09 박유미 The GenomeAsia 100K Project enables genetic discoveries across Asia  SysBiol
19 박유미 Improved stratification of ALL patients at risk for thiopurine-related toxicity using GVB  TopicSem
26 박유미 Review of clinical coding classification systems: Read, BNF, and dm d  xMutant

2019-11:
07 박유미 Variant-level comparison between in silico prediction scores and VAMP-seq scores  xMutant
18 박유미 Improved stratification of subjects at high-risk of thiopurine-related toxicity using gene-wise variant burden score (TPMT and NUDT15)   TopicSem

2019-10:
14 박유미 Improved stratification of subjects at high-risk of thiopurine-related toxicity using gene-wise variant burden score  TopicSem
14 박유미 Distribution of in silico prediction scores for NUDT15 variants identified in gnomAD database  SysBiol
21 박유미 Comprehensive genomic characterization of pharmacogenetic, common-disease, and Mendelian-disease genes facilitates the risk gene prioritization.  Seminar

2019-09:
05 박유미 The all of us research program  xMutant
21 박유미 Massive parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity     J.Club

2019-08:
12 박유미 Comprehensive genomic characterization of pharmacogenetic, common-disease, and Mendelian-disease genes and its applications to gene prioritization.  TopicSem
12 박유미 Whole-genome sequencing of rare disease patients in a national healthcare system - Genomics England 100,000 genomes project  SysBiol

2019-07:
01 박유미 Association of CRIM1 variant and 6-mercaptopurine-induced adverse effects in childhood acute lymphoblastic leukemia  SysBiol
04 박유미 Mutagenesis-based protein structure determination   xMutant
13 박유미 Evolutionary coupling analysis identifies the impact ofdisease-associated variants at less-conserved sites     J.Club
18 박유미 Developing modifications for gene-wise variant burden score  TopicSem

2019-06:
13 박유미 Data overview for Parkinsons Progression Markers Initiative (PPMI) project  TopicSem

2019-05:
09 박유미 Whole-genome reference panel of 1781 Northeast Asians improves imputation accuracy of rare and low-frequency variants  xMutant
13 박유미 Evaluating potential drug targets through human loss-of- function genetic variation  SysBiol

2019-04:
22 박유미 Gene-wise variant burden (GVB) score: implications for characteristics of genetic features   TopicSem
27 박유미 Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank     J.Club

2019-03:
02 박유미 Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder     J.Club
25 박유미 An open resource of structural variation for medical and population genetics  SysBiol
28 박유미 Gene-wise variant burden(GVB) score: additional things required to be developed  TopicSem
28 박유미 Difference of genetic architectures in men and women with depression  xMutant

2019-02:
14 박유미 Evidence of indirect associations between MDD and FBF1  TopicSem

2019-01:
07 박유미 Finding indirect associations of tagging SNPs with MDD  TopicSem
15 박유미 Why do polygenic risk scores get so much hype?   xMutant
31 박유미 Difference of genetic architectures in men and women with depression  SysBiol

2018-12:
03 박유미 Summary of replication study gene-level results for patients with variant angina  TopicSem
22 박유미 Estimating the selective effects of heterozygous protein-truncating variants from human exome data     J.Club
26 박유미 Evaluating the utility of PGS as a predictor for 6-mercaptopurine intolerance in pediatric ALL patients  Seminar

2018-11:
01 박유미 Understanding the sex bias in major depressive disorder : The male protective effect model  TopicSem
13 박유미 Genome-wide meta-analysis of depression in 807,553 individuals identifies 102 independent variants with replication in a further 1,507,153 individuals  xMutant
29 박유미 Descriptive data analysis: in vitro functionality of 337 PGx variants  SysBiol

2018-10:
04 박유미 Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions  SysBiol
13 박유미 Trans effects on gene expression can drive omnigenic inheritance     J.Club

2018-09:
18 박유미 Reviewing the clinical utility of polygenic risk score  xMutant
20 박유미 Summary of replication study results for patients with variant angina  TopicSem

2018-08:
02 박유미 Worldwide Distribution of Cytochrome P450 Alleles  SysBiol
13 박유미 Deriving the contribution of NUDT15 variants to enzymatic activity using a functional gene-level score  TopicSem
18 박유미 Loose ends: almost one in five human genes still have unresolved coding status     J.Club

2018-07:
16 박유미 Identifying potential major depressive disorder associated genes  TopicSem
31 박유미 Common Disease Is More Complex Than Implied by the Core Gene Omnigenic Model  xMutant

2018-06:
05 박유미 Potentially susceptible genes to major depressive disorder  xMutant
07 박유미 Current progress and future prospects in organoid research  SysBiol
09 박유미 Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease     J.Club
18 박유미 Identifying potential major depressive disorder associated genes  TopicSem

2018-05:
14 박유미 Deriving the contribution of TPMT variants to enzymatic activity using a functional gene-level score  TopicSem

2018-04:
05 박유미 Assessment of Ergonovine-Induced drug hypersensitivity reactions in the diagnosis of Coronary Artery Spasm using resampling validation method  TopicSem
05 박유미 Functionalization of Variants in Clinically Actionable Pharmacogenes (F-CAP)  SysBiol
10 박유미 Evaluation of drug scores in antidepressants  xMutant

2018-03:
24 박유미 The Medical Genome Reference Bank: a whole genome data resource of 4,000 healthy elderly individuals. Rationale and cohort design     J.Club

2018-02:
08 박유미 Are preprints the future of biology?  xMutant
26 박유미 The characteristics of singleton variants in Autism Spectrum Disorder  TopicSem

2018-01:
06 박유미 Pharmacogenomics of GPCR Drug Targets     J.Club
18 박유미 The characteristics of singleton variants in neuropsychiatric disorders  TopicSem

2017-12:
13 박유미 Association of genetic variants with variant angina in 80 case-control individuals  TopicSem
28 박유미 The charactericstics of singleton variants in neuropsychiatric disorders  xMutant

2017-11:
04 박유미 Variant Interpretation: Functional Assays to the Rescue     J.Club
13 박유미 Category-dependent score adjustment schemes using genetic algorithm  TopicSem
16 박유미 Comparing protein evolution based score with molecular function score in PPARG  xMutant

2017-10:
16 박유미 Finding indirect associations of tagging SNPs with variant angina  TopicSem

2017-09:
21 박유미 Trans-Omics for Precision Medicine (TOPMed) program and Bravo browser  xMutant

2017-08:
01 박유미 Association of a genetic variant in TSHR with variant angina  xMutant
26 박유미 Gene family information facilitates variant interpretation and identification of disease associated genes     J.Club
30 박유미 Selecting appropriate cell lines for evaluating the utility of personalized gene-level scoring (PGS) system  TopicSem

2017-07:
01 박유미 An Expanded View of Complex Traits: From Polygenic to Omnigenic     J.Club
31 박유미 Analysis for identifying genes associated with Variant Angina  TopicSem

2017-06:
21 박유미 Establishing genetic model with consideration of gene-specific characteristics using a distance-based approach  TopicSem

2017-05:
22 박유미 Identification of individual-level deleterious genes using a distance-based approach  TopicSem
31 박유미 Identifying personalized candidate genes using case-control score distribution dissimilarity  xMutant

2017-04:
05 박유미 The genome Aggregation Database (gnomAD) : An overview of data properties  xMutant
12 박유미 Analysis for identifying genes associated with Variant Angina  TopicSem

2017-03:
08 박유미 Translating phenotype into a functional gene-level score  TopicSem
25 박유미 Characterization of ADME gene variation in 21 populations by exome sequencing     J.Club

2017-02:
08 박유미 Translating phenotype into a functional gene-level score using Corriell samples Pharmacogenomic genotypes  xMutant

2017-01:
14 박유미 The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes     J.Club
16 박유미 Translating CYP2D6 enzyme activity into a functional gene-level score  TopicSem

2016-12:
14 박유미 Evaluating the intolerance of genic sub-regions     xMutant
30 박유미 A Personalized Gene-level Scoring System for Exome Variants: Comprehensive Evaluation in Multiple Genetic Conditions.  Seminar

2016-11:
30 박유미 Comprehensive Evaluation of Gene-level Scoring Systems for Deleterious Exome Variants: Score Normalization issues  TopicSem

2016-10:
19 박유미 Functional similarity of genes by CDS length  xMutant
29 박유미 The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes      J.Club
31 박유미 Comprehensive Evaluation of Gene-level Scoring Systems for Deleterious Exome Variants: GDI, RVIS, and PGDS  TopicSem

2016-09:
19 박유미 Evaluation of gene-wise scores; Personalized Gene Deleteriousness Score (PGDS)  TopicSem

2016-08:
01 박유미 Comparing gene scoring methods: RVIS, GDI, and Personalized Gene Damaging Score (PGDS)  TopicSem
19 박유미 ReAlCap (Reads Alignment Capture) : A fast and handy tool for capturing genomic reads  Seminar
22 박유미 Review of 5 clustering algorithms in weka  xMutant

2016-07:
30 박유미 The human gene damage index as a gene-level approach to prioritizing exome variants     J.Club

2016-06:
27 박유미 Simulation of variants aggregation method within genes  TopicSem
27 박유미 The relationship between four properties of genes and gene damage scores  xMutant

2016-05:
02 박유미 HAPGEN2 : simulation of multiple disease SNPs  xMutant
18 박유미 Analysis of genetic variant within putative miRNA binding sites; GNB3 and CDCA3   TopicSem
28 박유미 Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population     J.Club

2016-04:
11 박유미 Simulation for comparative evaluation of variant aggregation methods on diverse underlying disease architecture  TopicSem

2016-03:
07 박유미 Comparing variant aggregation methods using Alzheimer’s Disease Sequencing Project WXS Data  TopicSem
07 박유미 Characteristics of three classic genome scale model building methods  xMutant
19 박유미 Personalized Whole-Cell Kinetic Models of Metabolism for Discovery in Genomics and Pharmacodynamics     J.Club

2016-01:
15 박유미 Evaluation of exomes from Ion Proton for variants in sequencing-error prone regions  Seminar
18 박유미 APEX1_GNB3 in early neutropenia cases  TopicSem
25 박유미 APBC2016 review  Seminar

2015-12:
21 박유미 Candidate leukemic variants effect on 181 ALL patients  TopicSem
26 박유미 Systematic comparison of variant calling pipelines using gold standard personal exome variants     J.Club

2015-11:
16 박유미 6-mercaptopurine related neutropenia cases from ALL;Statistical test results using 1KP data  TopicSem

2015-10:
12 박유미 Fluidigm Results Summary and Drug Score Update Issues  TopicSem
16 박유미 Manipulating gene sets for drug score calculation  MAInfo
24 박유미 Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing     J.Club

2015-09:
12 박유미 Review of Optimal Unified Approach for Rare Variant Association Test(SKAT-O)  MAInfo
22 박유미 Summary of fluidigm results for 6-mercaptopurine related neutropenia cases from ALL  xMutant

2015-08:
31 박유미 Sequencing Data Summary and Directory  TopicSem

2015-07:
20 박유미 Ion Proton WXS data curation performance issues  TopicSem
25 박유미 Whole-genome sequence variation, population structure and demographic history of the Dutch population     J.Club

2015-06:
05 박유미 Targeted sequencing data analysis of 6-mercaptopurine related neutropenia cases from ALL  MAInfo
17 박유미 Targeted sequencing data analysis of 6-mercaptopurine related neutropenia cases from ALL  TopicSem
26 박유미 Candidate gene summary of 6-mercaptopurine related neutropenia cases from ALL  MAInfo
26 박유미 Candidate gene summary of 6-mercaptopurine related neutropenia cases from ALL  MAInfo

2015-05:
02 박유미 Genetic Diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data     J.Club
13 박유미 Workflow for an erroneous variant correction method  TopicSem

2015-04:
03 박유미 Summary of erroneous patterns in busulfan case  MAInfo
06 박유미 Characterization of error sequences in Busulfan data  TopicSem
10 박유미 Summary statistics of Alzheimer sequencing data  xMutant

2015-03:
07 박유미 Ethnic specific associations of rare and low frequency DNA sequence variants with asthma     J.Club
11 박유미 OMIM database localization  TopicSem

2015-02:
06 박유미 HHA data analysis : protein domain annotation results  MAInfo

2015-01:
02 박유미 Summary of Hereditary Hemolytic Anemia Targeted Sequencing data analysis  MAInfo
21 박유미 Summary of HHA data analysis results  TopicSem
23 박유미 HHA data analysis : Internal Control Issues  xMutant
26 박유미 HHA data analysis  Seminar
26 박유미 SG02  Seminar

2014-12:
03 박유미 GWAS like association study results and sequence level analysis of HHA data  TopicSem
27 박유미 Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome     J.Club

2014-11:
05 박유미 Rare LoF variants, genes in SG02  Seminar
14 박유미 Joint calling pipeline for somatic mutations & result stats  xMutant
28 박유미 Analysis of HHA data : Variant calling result and sequence level SIFT annotation  MAInfo

2014-10:
04 박유미 Breast Cancer Risk in Families with Mutations in PALB2     J.Club
10 박유미 SG02 Genome Interpretation processing  MAInfo
29 박유미 AA(aplastic anaemia), Eos(eosinophilia), and HS(Hereditary spherocytosis) Data preprocessing  TopicSem

2014-09:
17 박유미 Comparing the distribution of CADD score to that of SIFT score  TopicSem

2014-08:
04 박유미 Alzheimers Disease Sequencing Project :Data Statistics and description  TopicSem
16 박유미 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer     J.Club
20 박유미 Systematic meta-analyses of Alzheimer disease genetic association studies  xMutant

2014-07:
03 박유미 Exome Sequencing pipeline and analysis results  MAInfo
07 박유미 Gene Scoring scheme revision using CADD score  TopicSem
18 박유미 LOH of tumor suppressor genes and chemotherapy response using TCGA data  MAInfo

2014-06:
04 박유미 Implicating sequence variants in human disease using genome sequencing data  TopicSem
05 박유미 Whole-genome and whole-exome sequencing in neurological diseases  xMutant
07 박유미 Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy     J.Club

2014-05:
22 박유미 Variant Annotation Tool(VAT) Review  MAInfo

2014-04:
03 박유미 Variant calling pipeline for P0 genome  MAInfo
30 박유미 Comparison of variant calling algorithms for whole genome sequencing data   TopicSem

2014-03:
13 박유미 The 1000 Genomes pilot projects  MAInfo
27 박유미 SIFT : predicting amino acid changes that affect protein function  MAInfo

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