Article

VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage

2021-06-22

Abstract excerpt

<h4>Motivation</h4> Homozygous deletions (HDs) may be the cause of rare diseases and cancer and their discovery in targeted sequencing is a challenging task. Different tools have been developed to disentangle HD discovery but a sensitive caller is still lacking. <h4>Results</h4> We present VarGenius-HZD, a sensitive and scalable algorithm that leverages breadth-of-coverage for the detection of rare homozygous an...

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Literature Corpus work: a95cad0e-ceca-5fb5-a0ce-1561e8aa5b1c
DOI: 10.1101/2021.06.21.449209

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