Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

Genetic variation predisposes to disease via monogenic and polygenic risk variants. Here, the authors assess the interplay between these types of variation on disease penetrance in 80,928 individuals. In carriers of monogenic variants, they show that disease risk is a gradient influenced by polygeni...

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Autores principales: Akl C. Fahed, Minxian Wang, Julian R. Homburger, Aniruddh P. Patel, Alexander G. Bick, Cynthia L. Neben, Carmen Lai, Deanna Brockman, Anthony Philippakis, Patrick T. Ellinor, Christopher A. Cassa, Matthew Lebo, Kenney Ng, Eric S. Lander, Alicia Y. Zhou, Sekar Kathiresan, Amit V. Khera
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
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Science
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Acceso en línea:https://doaj.org/article/accfd73a30f24117b30c06b2df4acd2d
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