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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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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7441381/
https://ncbi.nlm.nih.gov/pubmed/32820175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-17374-3
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