Article

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing

2023-01-13

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Neurodevelopmental disorders (NDDs) often result from rare genetic variation, but genomic testing yield for NDDs remains around 50%, suggesting some clinically relevant rare variants may be missed by standard analyses. Here we analyze “poison exons” (PEs) which, while often absent from standard gene annotations, are alternative exons whose inclusion results in a premature termi...

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Literature Corpus work: ecb2487c-cf0c-53c4-9ecf-d9a049d1ac95
DOI: 10.1101/2023.01.12.523654

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