Rare penetrant mutations confer severe risk of common diseases

We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ~10-fold larger effects than common variants in the same genes. Consequently, an indivi...

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Detalles Bibliográficos
Autores principales: Fiziev, Petko, McRae, Jeremy, Ulirsch, Jacob C., Dron, Jacqueline S., Hamp, Tobias, Yang, Yanshen, Wainschtein, Pierrick, Ni, Zijian, Schraiber, Joshua G., Gao, Hong, Cable, Dylan, Field, Yair, Aguet, Francois, Fasnacht, Marc, Metwally, Ahmed, Rogers, Jeffrey, Marques-Bonet, Tomas, Rehm, Heidi L., O’Donnell-Luria, Anne, Khera, Amit V., Kai-How Farh, Kyle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187340/
https://www.ncbi.nlm.nih.gov/pubmed/37205493
http://dx.doi.org/10.1101/2023.05.01.23289356

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