The Second Kyoto Course on Bioinformatics for Next Generation Sequencing with Applications in Human Genetics – March 10th-12th, 2014
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DAY1: MASSIVELY-PARALLEL SEQUENCING IN HUMAN GENETICS |
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| 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 |
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DAY2: APPLICATIONS TO HUMAN GENETICS |
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| 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 |
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DAY3: STATISTICS FOR NGS DATA |
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| 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 |