Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
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Author / Creator
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 and Khera, Amit V.
Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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 and polygenic risk. Here, we study 80,928 individual...
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Full title
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
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TN_cdi_doaj_primary_oai_doaj_org_article_accfd73a30f24117b30c06b2df4acd2d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_accfd73a30f24117b30c06b2df4acd2d
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-020-17374-3
