Article

Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

2016-12-07

Abstract excerpt

<h4>ABSTRACT</h4> The interpretation of genetic variants identified during clinical sequencing has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC). Genuinely pathogenic variants, particularly in genes associated with severe autosomal dominant conditions, are assumed to be absent or extremely rare in these databases. Clinical exome sequencing of a six-year-old...

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Literature Corpus work: ac131f60-bdfd-5ba6-96fa-6d385d4ebc4c
DOI: 10.1101/090720

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