The Third Kyoto Course on Bioinformatics for Next Generation Sequencing with Applications in Human Genetics – March 16th-18th, 2015
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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 |
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9:30 – 10:45 |
Lecture: Introduction to human genetics |
Joseph D. Terwilliger |
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10:45 – 11:15 |
Coffee break |
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11:15 – 12:00 |
Lecture: Next-generation sequencing (NGS) in human genetics |
Mark Lathrop |
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12:00 – 13:00 |
Lunch |
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13:00 – 13:30 |
Practical: Basic Linux |
Daniel E. Weeks |
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13:30 – 14:30 |
Lecture: Understanding NGS data analysis workflow |
Guillaume Bourque |
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14:30 – 15:00 |
Coffee break |
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15:00 – 17:30 |
Practical: NGS data manipulation and variant calling (SNV, CNV) |
Mathieu Bourgey |
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DAY2: APPLICATIONS TO HUMAN GENETICS |
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8:00 – 8:30 |
Discussions with instructors |
Staff |
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8:30 – 9:30 |
Lecture: Analysis of RNA-seq and epigenetic data |
Guillaume Bourque |
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9:30 – 10:30 |
Lecture: Annotating and prioritising variants in human disease studies |
Jacek Majewski |
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10:30 – 11:00 |
Coffee break |
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11:00 – 12:00 |
Practical: Analysis of disease variants |
Jacek Majewski |
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12:00 – 13:00 |
Lunch |
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13:00 – 14:00 |
Lecture: Target sequencing analysis of HLA loci |
Wanling Yang |
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14:00 – 15:00 |
Lecture: Novel family-control analysis to prioritize sequence variants in familial cardiomyopathy |
Atsuko Imai |
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15:00 – 16:00 |
Lecture: Introduction to statistical testing with NGS data (gene-based rare variant tests) |
Daniel E. Weeks |
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16:00 – 16:30 |
Coffee break |
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16:30 – 18:00 |
Practical: Statistical testing with NGS data (gene-based rare variant tests) |
Daniel E. Weeks |
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DAY3: COMPUTATIONAL AND STATISTICAL METHODS FOR NGS DATA |
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8:00 – 8:30 |
Discussions with instructors |
Staff |
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8:30 – 10:00 |
Lecture: Poisson processes and Poisson distribution for NGS data |
Ryo Yamada |
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10:00 – 10:30 |
Coffee break |
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10:30 – 12:00 |
Practical: Poisson processes and Poisson distribution for NGS data |
Ryo Yamada |
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12:00 – 13:00 |
Lunch |
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13:00 – 14:30 |
Lecture: Computational methods for predicting functional effect of sequence variants |
Shamil Sunyaev |
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14:30 – 15:30 |
Lecture: QTL mapping from epigenomic data |
Liming Liang |
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15:30 – 16:00 |
Coffee break |
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16:00 – 17:00 |
Practical: QTL mapping from epigenomic data |
Liming Liang |
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17:00 – 17:30 |
Lecture: Homozygosity mapping |
Jurg Ott |
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17:30 – 17:45 |
Course wind-up |
Jurg Ott |
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