%0 Journal Article
%T Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
%A Ahmad N. Abou Tayoun
%A Andrea M. Oza
%A Andrew R. Grant
%A Brandon J. Cushman
%A Elizabeth Hynes
%A Heidi L. Rehm
%A Marina T. DiStefano
%A Mark J. Bowser
%A Michael A. Gonzalez
%A Rebecca K. Siegert
%A Sami S. Amr
%A Sarah E. Hemphill
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.06.005
%X Variant interpretation depends on accurate annotations using biologically relevant
transcripts. We have developed a systematic strategy for designating primary transcripts
and have applied it to 109 hearing loss¨Cassociated genes that were divided into three
categories. Category 1 genes (n£¿=£¿38) had a single transcript; category 2 genes (n£¿=£¿33)
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.
%U https://jmd.amjpathol.org/article/S1525-1578(18)30099-0/fulltext