Article

<i>WEScover</i> : selection of whole exome sequencing vs. gene panel testing

2018-07-27

Abstract excerpt

<h4>Motivation</h4> Whole exome sequencing (WES) is widely adopted in clinical and research settings. However, there is potential for false negatives due to incomplete breadth and depth of coverage for several exons in clinically implicated genes. In some cases, a targeted gene panel testing may be a dependable option to ascertain true negatives for genomic variants in known phenotype associated genes. We develop...

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Literature Corpus work: 5b0e1c4c-a442-58a5-a0f0-c4541089b00d
DOI: 10.1101/367607

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