Article

<i>de novo</i> variant calling identifies cancer mutation profiles in the 1000 Genomes Project

2021-05-27

Abstract excerpt

<h4>ABSTRACT</h4> Detection of de novo variants (DNVs) is critical for studies of disease-related variation and mutation rates. We developed a GPU-based workflow to rapidly call DNVs (HAT) and demonstrated its effectiveness by applying it to 4,216 Simons Simplex Collection (SSC) whole-genome sequenced parent-child trios from DNA derived from blood. In our SSC DNV data, we identified 78 ± 15 DNVs per individual,...

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Literature Corpus work: 561a6482-39e8-518e-b2cd-472034dd071d
DOI: 10.1101/2021.05.27.445979

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