Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

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 unch...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Perspective
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059338/
https://www.ncbi.nlm.nih.gov/pubmed/33798442
http://dx.doi.org/10.1016/j.ajhg.2021.03.003

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