Article

Improving variant calling using population data and deep learning

2021-01-07

Abstract excerpt

Large-scale population variant data is often used to filter and aid interpretation of variant calls in a single sample. These approaches do not incorporate population information directly into the process of variant calling, and are often limited to filtering which trades recall for precision. In this study, we develop population-aware DeepVariant models with a new channel encoding allele frequencies from the 1000...

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Identifiers and source

Literature Corpus work: 66f508ac-f403-5748-a27b-9e0ab43f6f0a
DOI: 10.1101/2021.01.06.425550

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