Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

Interpreting variants of uncertain significance (VUS) is a central challenge in medical genetics. One approach is to experimentally measure the functional consequences of VUS, but to date this approach has been post hoc and low throughput. Here we use massively parallel assays to measure the effects...

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Detalhes bibliográficos
Publicado no:Genetics
Main Authors: Starita, Lea M., Young, David L., Islam, Muhtadi, Kitzman, Jacob O., Gullingsrud, Justin, Hause, Ronald J., Fowler, Douglas M., Parvin, Jeffrey D., Shendure, Jay, Fields, Stanley
Formato: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2015
Assuntos:
Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492368/
https://ncbi.nlm.nih.gov/pubmed/25823446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.115.175802
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