Skip to main content

GATK-SV

Enabling scalable, cloud-native structural variant discovery

for short-read whole-genome sequencing data

Terra integration

Run your data with pre-configured workspaces on the secure Terra platform

Population-scale capabilities

Used for SV discovery in flagship research studies including the Genome Aggregation Project (gnomAD) and All of Us.

Sensitive and accurate

Ensemble calling with multiple SV discovery tools combined with joint genotyping maximize power, and ML-based variant adjudication filters poor quality variants.

Cloud-native

Built for the Terra genomics platform, enabling scalability, collaboration, and reproducibility in a secure environment.

Featured Projects

gnomADall-of-usHGSVC1000-genomes-project

Organizations

Broad InstituteTalkowski LabCenter for Genomic Medicine