The Second Kyoto Symposium on Bioinformatics for Next Generation Sequencing with Applications in Human Genetics – March 13th-14th, 2014

Thursday, March 13

10:00 – 10:10 Opening remark
Nagahiro Minato (Dean, Kyoto University Graduate School of Medicine)

Introduction to Whole Genome Analysis to Health and Disease (Chairperson: Suzanne M. Leal)

10:10 – 10:45 Personalized genetic risks: Confidence is key
Daniel E. Weeks (University of Pittsburgh, USA)
10:45 – 11:20 Study design for genetic analysis of complex traits – why sequencing is not the answer
Joseph D. Terwilliger (Columbia University, USA)
11:20 – 11:40 Coffee break

Exome Sequencing and Its Application to Disease Studies (Chairperson: Daniel E. Weeks)

11:40 – 12:15 Rare variant extensions of the transmission disequilibrium test: Application to autism exome sequence data
Suzanne M. Leal (Baylor College of Medicine, USA)
12:15 – 12:50 Identifying disease-related rare variants in exome sequencing studies
Pak-Chung Sham (University of Hong Kong, Hong Kong)
12:50 – 14:00 Lunch break
14:00 – 14:35 Computational methods for sequencing studies in Mendelian and complex trait genetics
Shamil R. Sunyaev (Harvard Medical School, USA)
14:35 – 15:10 A protein-domain approach for the analysis of disease mutations
Maricel G. Kann (University of Maryland, USA)

Cancer Genomics (Chairperson: Maricel G. Kann)

15:10 – 15:45 Applications of integrative genomics in cancer biology
Jacek Majewski (McGill University, Canada)
15:45 – 16:05 Coffee break
16:05 – 16:40 Application of GWAS and NGS to decipher the architecture of inherited susceptibility to cancer
Richard Houlston (Institute of Cancer Research, UK)
16:40 – 17:15 To be announced
Jong-Il Kim (Seoul National University, Korea)
17:15 – 17:50 Cancer genomics for therapy: Achievements and challenges
Makoto M. Taketo (Kyoto University, Japan)

Friday, March 14

Genome-Wide Analysis of Immune-Related Disorders (Chairperson: Fumihiko Matsuda)

9:00 – 9:35 Strategies to utilize genetic data for elucidation of disease biology and drug discovery
Yukinori Okada (Tokyo Medical and Dental University, Japan)
9:35 – 10:10 Genomic analysis of immune-related diseases using GWAS and WES
Fumihiko Matsuda (Kyoto University, Japan)
10:10 – 10:45 From genome-wide mapping to pathway models of autoimmune diseases
Peter Carbonetto (University of Chicago, USA)
10:45 – 11:05 Coffee break

Large-Scale Cohort Study and Genomic Epidemiology (Chairperson: Mark Lathrop)

11:05 – 11:25 Introduction: Use of large cohorts for genetic epidemiology
Mark Lathrop (McGill University, Canada)
11:25 – 12:00 The UK 100, 000 whole genome sequencing programme
Mark J. Caulfield (Queen Mary University of London, UK)
12:00 – 12:35 Taiwan BioBank for the health of next generations
Chen-Yang Shen (Academia Scinica, Taiwan)
12:35 – Closing remark
Jurg Ott (Chinese Academy of Sciences, PRC and Rockefeller University, USA)