GATK-SV

GATK-SV is a structural variation discovery pipeline for Illumina short-read whole-genome sequencing (WGS) data. It is designed for use on cohorts (>100 samples), although it also supports a single-sample mode. Ryan co-led the development of the alpha version of GATK-SV, and used it to produce the gnomAD-SV reference catalog as described in Collins*, Brand*, et al., Nature (2020). GATK-SV is available via GitHub.