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ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing

14 Apr 2020

Abstract excerpt

SUMMARY: We introduce shallowHRD, a software tool to evaluate tumor homologous recombination deficiency (HRD) based on whole genome sequencing (WGS) at low coverage (shallow WGS or sWGS; ∼1X coverage). The tool, based on mining copy number alterations profile, implements a fast and straightforward procedure that shows 87.5% sensitivity and 90.5% specificity for HRD detection. shallowHRD could be instrumental in...

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PMID: 32315385
DOI: 10.1093/bioinformatics/btaa261

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