Article

HAT: <i>de novo</i> variant calling for highly accurate short-read and long-read sequencing data

2023-01-28

Abstract excerpt

<h4>Motivation</h4> de novo variant (DNV) calling is challenging from parent-child sequenced trio data. We developed H are A nd T ortoise (HAT) to work as an automated workflow to detect DNVs in highly accurate short-read and long-read sequencing data. Reliable detection of DNVs is important for human genetics studies (e.g., autism, epilepsy). <h4>Results</h4> HAT is a workflow to detect DNVs from short-read...

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Literature Corpus work: a2673a69-481c-5532-a151-6e9272fee0e6
DOI: 10.1101/2023.01.27.525940

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