Course 2014

The Second Kyoto Course on Bioinformatics for Next Generation Sequencing with Applications in Human Genetics – March 10th-12th, 2014

DAY1: MASSIVELY-PARALLEL SEQUENCING IN HUMAN GENETICS

9:00 – 9:30 Opening remarks & Course overviews Fumihiko Matsuda, Mark Lathrop
9:30 – 10:45 Lecture: Design and implementation of studies in 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 (optional) Staff
13:30 – 14:30 Lecture: Understanding NGS data analysis workflow Louis Letourneau
14:30 – 15:00 Coffee break
15:00 – 17:30 Practical: NGS quality control and variant calling Louis Letourneau

DAY2: APPLICATIONS TO HUMAN GENETICS

8:15 – 9:00 Discussions with instructors
9:00 – 10:00 Lecture: NGS Variant Calling (SNV, CNV) Louis Letourneau
10:00 – 11:00 Lecture: Annotating and prioritising variants in human disease studies Jacek Majewski
11:00 – 11:15 Coffee break
11:15 – 13:00 Practical: Analysis of disease variants Jacek Majewski
13:00 – 14:00 Lunch
14:00 – 15:00 Interpreting cancer sequence data Richard Houlston
15:00 – 16:00 Introduction to statistical testing Daniel E. Weeks
16:00 – 16:30 Coffee break
16:30 – 18:00 Practical: Introduction to statistical testing in human genetics Daniel E. Weeks

DAY3: STATISTICS FOR NGS DATA

8:00 – 8:30 Discussions with instructors
8:30 – 9:45 Practical: Pseudomarker for combined linkage and association analysis Joseph D. Terwilliger
9:45 – 10:00 Coffee break
10:00 – 11:00 Lecture: Statistical testing with NGS data Suzanne M. Leal
11:00 – 12:00 Practical: Statistical testing with NGS data Suzanne M. Leal
12:00 – 13:00 Lunch
13:00 – 13:45 Lecture: Computer methods for predicting gene effects and detecting disease variants Pak-Chung Sham
13:45 – 14:30 Practical: Computer methods for predicting gene effects and detecting disease variants Pak-Chung Sham
14:30 – 15:30 Lecture: Multi-marker and linear mixed model approaches to mapping disease
and quantitative trait loci Peter Carbonetto
15:30 – 16:00 Coffee break
16:00 – 17:00 Practical: Multi-marker and linear mixed model approaches to mapping disease
and quantitative trait loci Peter Carbonetto
17:00 – 17:45 Course wind-up: Genes and environment Jurg Ott