Article
Curating clinically relevant transcripts for the interpretation of sequence variants
2018-03-05
Abstract excerpt
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 3 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...
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Identifiers and source
- Literature Corpus work
- fb81817c-dd7e-5c9f-aeeb-7e353682a068
- DOI
- 10.1101/276287