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
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/accfd73a30f24117b30c06b2df4acd2d
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spelling	oai:doaj.org-article:accfd73a30f24117b30c06b2df4acd2d2021-12-02T17:08:30ZPolygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions10.1038/s41467-020-17374-32041-1723https://doaj.org/article/accfd73a30f24117b30c06b2df4acd2d2020-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-17374-3https://doaj.org/toc/2041-1723Genetic 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 polygenic background.Akl C. FahedMinxian WangJulian R. HomburgerAniruddh P. PatelAlexander G. BickCynthia L. NebenCarmen LaiDeanna BrockmanAnthony PhilippakisPatrick T. EllinorChristopher A. CassaMatthew LeboKenney NgEric S. LanderAlicia Y. ZhouSekar KathiresanAmit V. KheraNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-9 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
description	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 polygenic background.
format	article
author	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
author_facet	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
author_sort	Akl C. Fahed
title	Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
title_short	Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
title_full	Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
title_fullStr	Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
title_full_unstemmed	Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
title_sort	polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/accfd73a30f24117b30c06b2df4acd2d
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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

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