Article
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
American journal of human genetics - 1 Apr 2021
McInnes Gregory, Sharo Andrew G, Koleske Megan L, Brown Julia E H, Norstad Matthew, Adhikari Aashish N, Wang Sheng, Brenner Steven E, Halpern Jodi, Koenig Barbara A, Magnus David C, Gallagher Renata C, Giacomini Kathleen M, Altman Russ B
Abstract excerpt
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of variants in an individual's genome. The impact of recurrent pathogenic variants is often understood, however there is a long tail of rare genetic variants that are uncharacterized. The problem of uncharacterized rare variation is especially acute when it occurs in genes of known clinical importance with...
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