DAY 1: Translational Bioinformatics: Thousands of Public Data Analysis

          2월 22일(월)

시간

  주  제

강 사

8:30 ~ 9:30

9:30 ~ 9:50

Translational Bioinformatics: Public Bio Big Data

 김주한 교수

9:50 ~ 10:40

TCGA Project and Cancer Genome Research
- TCGA Introduction
- TCGA Data and Scientific Findings
- Impact of TCGA and Future

 김태민 교수
(카톨릭의대)

10:50 ~ 12:10

실 습 I: TCGA Somatic Mutation Landscape
          Find Significantly Mutated Genes
          Identify Driver Groups of Mutations

이우승, 임영균

12:10 ~ 13:10

  중  식

13:10 ~ 14:00

The 1000 Genomes Project and Human Genome Diversity
- 1000 Genome Samples and Populations
- Mutation Frequencies in Diverse Populations
- 1KP Transcriptomes and Functional Variation

이계화 박사
(서울의대)

14:10 ~ 15:30

실 습 II: The 1000 Genomes Project Browser
          Allele Frequency and Genotypic Frequency Calculation
          Identification of Rare and Deleterious Mutations

박유미, 김주연

15:40 ~ 16:30

The Dominant Regulatory microRNAs and Epigenetic Modulators
- Translational Research
- Oncogenomics
- Epigenetic Regulation

남석우 교수
(카톨릭의대)

16:40 ~ 18:00

실 습 III: ENCODE Data at UCSC Genome Browser
           DNA Mutations in Genome Level
           Functional Methylation/Histone Modification in Epigenetic Level
           Epigenetic Regulation of Gene Expression 

윤선민, 이우승

DAY 2: Methodology and Application for Next Generation Sequencing

           2월 23일(화)

시간

  주  제

강 사

8:30 ~ 9:30

9:30 ~ 9:50

김주한 교수

9:50 ~ 10:40

NGS Platforms and Applications
- Current NGS Platforms
- NGS Data Formats
- NGS Data Analysis Technologies
- NGS Applications

김지훈 박사
(랩지노믹스)

10:50 ~ 12:10

실 습 I: NGS Data Processing
          NGS Data Format Converting
          NGS Visualization Tools

서희원, 박지혜

12:10 ~ 13:10

  중  식

13:10 ~ 14:00

Genome Data Analysis
- Sequence Alignment Algorithms
- Whole Genome and Exome Data Analysis
- Variation Detection and Reference Genome

최무림 교수
(서울의대)

14:10 ~ 15:30

실 습 II: Exome Sequencing Alignment
           SNP and Indel Identification
           Variation Filtering

박찬희, 임영균

15:40 ~ 16:30

Functional Annotation of Sequence Variants
- Coding, Noncoding Variant Analysis
- Rare variants filtering based on Allele Frequency
- Identification of Pathogenic Variant as Diagnostic Marker

 이수연 박사
(삼성SDS)

16:40 ~ 18:00

실 습 III: Functional Effects of variant
           (PolyPhen2, SIFT, CADD, RegulomeDB)
           GENCODE and Ensembl Biomart

이정훈, 윤선민

DAY 3: NGS-based Rare and Common Disease Variant Analysis

          2월 24일(수)

시간

  주  제

강 사

8:30 ~ 9:30

9:30 ~ 9:50

NGS-based Rare and Common Disease Variant Analysis

 김주한 교수

9:50 ~ 10:40

Genomic Understanding of Common and Complex Diseases
- Diabetes and Endocrine Disease Genomics
- Genomes and Brain
- Bio Big Data Analysis for Genomic Understanding

최형진 교수
(서울의대)

10:50 ~ 12:10

실 습 I: Common and Complex Diseases Database
          GWAS, GAD, OMIM, COSMIC

이정훈, 류영재

12:10 ~ 13:10

  중  식

13:10 ~ 14:00

NGS-based Rare & common disease variant analysis
- Variant prioritization strategy
- Interpretation of deleterious coding variants
- Gene-centric approaches

김주한 교수
(서울의대)

14:10 ~ 15:30

실 습 II:Identification of rare variants using
           public database (dbSNP, ALFRED)
           Variant Burden Test
           Resources for Personal Genome Interpretation
           (ClinVar, HGMD, PheGeni, SNPedia, PhenoDB)

윤선민, 박유미

15:40 ~ 16:30

NGS Applications of Clinical Genetics and Genomics
- Understanding genetic risk prediction
- Genetic counseling
- Incidental findings from genomic sequencing data

이계화 박사
(서울의대)

16:40 ~ 18:00

실 습 III: Genetic Risk Prediction methods
           ACMG recommended genes annotation

박지혜, 류영재

DAY 4: Exome Sequencing and Cancer Genome Bioinformatics

          2월 25일(목)

시간

  주  제

강 사

8:30 ~ 9:30

9:30 ~ 9:50

Exome Sequencing and Cancer Genome Bioinformatics

 김주한 교수

9:50 ~ 10:40

Exome Sequencing Analysis in Clinical Research
- Exome Sequencing Data
- Study Design and Workflow
- Exome Sequencing of Familial Disease

김남신 박사
(생명공학연구원)

10:50 ~ 12:10

실 습 I: Trio-Exome-Sequencing Data Analysis
         Known Variant Filtering
         Detection of Disease-causing Variations
         Disease Gene Prioritization

박유미, 서희원

12:10 ~ 13:10

  중  식

13:10 ~ 14:00

Cancer Genome Bioinformatics
- Cancer Genome Analysis
- Identifying Genomic Rearrangement
- Gene Fusion Analysis
- Survival Analysis

송영수 교수
(한양의대)

14:10 ~ 15:30

실 습 II: Fusion Gene Analysis from RNA-seq
          Network and Survival Analysis
          Resources for Cancer Research:
          cBioPortal, COSMIC, CCLE, OncoMap

임영균, 박지혜

15:40 ~ 16:30

Copy Number and Genomic Rearrangement
- CNV Identification in Cancer Genome
- Copy Number Data Processing
- Genomic Rearrangement

김봉조 박사
(국립보건연구원)

16:40 ~ 18:00

실 습 III: Cancer Genomic Rearrangement
           Identification of CNV regions
           CNV Database

이우승, 윤선민

DAY 5: RNA-seq and Microarry Data Analysis

          2월 26일(금)

시간

  주  제

강 사

8:30 ~ 9:30

9:30 ~ 9:50

Advanced Microarray and RNA-seq Data Analysis

 김주한 교수

9:50 ~ 10:40

RNA-Seq Data Analysis
- Read Alignment Methods
- Expression Quantification Strategy
- Differentially Expressed Genes Identification

정제균 박사
(삼성유전체연구소)

10:50 ~ 12:10

실 습 I: Read alignment with TopHat,
          Expression Quantification with Cufflinks
          Alternative Splicing Identification

류영재, 서희원

12:10 ~ 13:10

  중  식

13:10 ~ 14:00

Biological Interpretation of Transcriptome Data
- Gene Ontology & Pathway Analysis
- Gene Set Enrichment Analysis
- Prognostic Subgroup Prediction

김주한 교수
(서울의대)

14:10 ~ 15:30

실 습 II: Gene Set Enrichment Analysis
           Cox-PH, Log Rank Test
           David, ArrayXPath

김주연, 이정훈

15:40 ~ 16:30

Sequence-level Transcriptome Analysis
- RNA-seq Expression Profile Analysis
- Novel Transcript Discovery
- RNA editing
- Non-coding RNA Characterization

남진우 교수
(한양대)

16:40 ~ 18:00

실 습 III: RNA-Seq Gene Expression Analysis
          RNA Editing Site Annotation
          miRNA Sequencing Data Process
          miRNA Expression Profiling

임영균, 이정훈