Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.

ABSTRACT: 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-associated 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. Transcripts were curated with respect to gene expression reported in the literature and the Genotype-Tissue Expression Project. In addition, high-frequency loss-of-function variants in the Genome Aggregation Database and disease-causing variants in ClinVar and the Human Gene Mutation Datab

SUBMITTER: DiStefano MT 

PROVIDER: S-EPMC6204605 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature