BroadE: Hail - Practical 2: Genome Wide Association Studies (GWAS) and Rare Variant Burden

The presentation below was filmed during the March 2020 Scalable Genomic Analysis Using Hail workshop, part of the BroadE Workshop series.

Hail is an open-source library that provides accessible interfaces for exploring genomic data, with a backend that automatically scales to take advantage of large compute clusters. Hail enables those without expertise in parallel computing to flexibly, efficiently, and interactively analyze large sequencing datasets. Hail is the analytical engine behind projects such as the Genome Aggregation Database, the UK Biobank mega-GWAS, eQTLs in GTEx, TOPMed, the Psychiatric Genomics Consortium, and the Centers for Mendelian Genomics. This BroadE workshop provides an introduction to Hail through hands-on exploration and analysis of public 1000 Genomes data. Following a brief conceptual overview, participants will be guided through a hands-on tutorial with interactive exercises. This BroadE workshop covers some of the most common use cases: general-purpose data exploration functionality; variant and sample quality control; common variant association; and rare variant burden tests. By the end, participants will be ready to begin using Hail to answer their own scientific questions.

 

Speakers
Kumar Veerapen, Ph.D, Hail Software Support and Outreach Manager
John Compitello, Hail Software Engineer
Patrick Schultz, Ph.D, Hail Software Engineer