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

Genetic variation can predispose to disease both through (i) monogenic risk variants that disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that involves many variants of small effect in different pathways. Few studies have explored the interplay between monogenic an...

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Detalles Bibliográficos
Autores principales: Fahed, Akl C., Wang, Minxian, Homburger, Julian R., Patel, Aniruddh P., Bick, Alexander G., Neben, Cynthia L., Lai, Carmen, Brockman, Deanna, Philippakis, Anthony, Ellinor, Patrick T., Cassa, Christopher A., Lebo, Matthew, Ng, Kenney, Lander, Eric S., Zhou, Alicia Y., Kathiresan, Sekar, Khera, Amit V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441381/
https://www.ncbi.nlm.nih.gov/pubmed/32820175
http://dx.doi.org/10.1038/s41467-020-17374-3

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