Curating clinically relevant transcripts for the interpretation of sequence variants
Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts, and applied it to 109 hearing loss –associated genes that were divided into three categories. Category 1 genes (n=38) had a single transcript, Category 2 genes (n=32) had multiple transcripts, but a single transcript was sufficient to represent all exons, and Category 3 genes (n=38) had multiple transcripts with unique exons. Trans cripts were curated with respect to gene expression reported in the literature and the Genotype-Tissue Expression Project.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Mark J. Bowser, Elizabeth Hynes, Andrew R. Grant, Rebecca K. Siegert, Andrea M. Oza, Michael A. Gonzalez, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun Tags: Regular Article Source Type: research