Course 2015

The Third Kyoto Course on Bioinformatics for Next Generation Sequencing with Applications in Human Genetics – March 16th-18th, 2015

DAY1: MASSIVELY-PARALLEL SEQUENCING IN HUMAN GENETICS

9:00 – 9:30 Opening remarks & course overviews Fumihiko Matsuda

9:30 – 10:45 Lecture: Introduction to human genetics Joseph D. Terwilliger

10:45 – 11:15 Coffee break

11:15 – 12:00 Lecture: Next-generation sequencing (NGS) in human genetics Mark Lathrop

12:00 – 13:00 Lunch

13:00 – 13:30 Practical: Basic Linux Daniel E. Weeks

13:30 – 14:30 Lecture: Understanding NGS data analysis workflow Guillaume Bourque

14:30 – 15:00 Coffee break

15:00 – 17:30 Practical: NGS data manipulation and variant calling (SNV, CNV) Mathieu Bourgey

DAY2: APPLICATIONS TO HUMAN GENETICS

8:00 – 8:30 Discussions with instructors Staff

8:30 – 9:30 Lecture: Analysis of RNA-seq and epigenetic data Guillaume Bourque

9:30 – 10:30 Lecture: Annotating and prioritising variants in human disease studies Jacek Majewski

10:30 – 11:00 Coffee break

11:00 – 12:00 Practical: Analysis of disease variants Jacek Majewski

12:00 – 13:00 Lunch

13:00 – 14:00 Lecture: Target sequencing analysis of HLA loci Wanling Yang

14:00 – 15:00 Lecture: Novel family-control analysis to prioritize sequence variants in familial cardiomyopathy

Atsuko Imai

15:00 – 16:00 Lecture: Introduction to statistical testing with NGS data (gene-based rare variant tests)

Daniel E. Weeks

16:00 – 16:30 Coffee break

16:30 – 18:00 Practical: Statistical testing with NGS data (gene-based rare variant tests)

Daniel E. Weeks

DAY3: COMPUTATIONAL AND STATISTICAL METHODS FOR NGS DATA

8:00 – 8:30 Discussions with instructors Staff

8:30 – 10:00 Lecture: Poisson processes and Poisson distribution for NGS data Ryo Yamada

10:00 – 10:30 Coffee break

10:30 – 12:00 Practical: Poisson processes and Poisson distribution for NGS data Ryo Yamada

12:00 – 13:00 Lunch

13:00 – 14:30 Lecture: Computational methods for predicting functional effect of sequence variants

Shamil Sunyaev

14:30 – 15:30 Lecture: QTL mapping from epigenomic data Liming Liang

15:30 – 16:00 Coffee break

16:00 – 17:00 Practical: QTL mapping from epigenomic data Liming Liang

17:00 – 17:30 Lecture: Homozygosity mapping Jurg Ott

17:30 – 17:45 Course wind-up Jurg Ott