Medical and Population Genetics


This study used GATK and seqr in Terra to identify variants likely to cause neurodevelopmental disorders, based on exome data from family trios.

Join the early access program to try out the Broad Institute's new Genomic Variant Store, a highly scalable variant storage and processing solution powered by Google BigQuery on Terra.

A short primer on what is the Global Alliance for Genomics and Health, why it matters, and links to recordings from the 2022 Plenary Meeting.

Computational biologist and longtime GATK team member Laura Gauthier provides an inside perspective on the methodologies underpinning recent discoveries in common disease research.

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