Contextualizing genetic risk score for disease screening and rare variant discovery

Genetic studies on complex traits have revealed a substantial role for common, small-effect polygenic burden and large-effect variants. Here, the authors investigate how these types of variation can inform disease risk stratification and prediction.

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Detalles Bibliográficos
Autores principales:	Dan Zhou, Dongmei Yu, Jeremiah M. Scharf, Carol A. Mathews, Lauren McGrath, Edwin Cook, S. Hong Lee, Lea K. Davis, Eric R. Gamazon
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a0fdb5cf51d64043aafb63ae5030b063
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spelling	oai:doaj.org-article:a0fdb5cf51d64043aafb63ae5030b0632021-12-02T17:57:16ZContextualizing genetic risk score for disease screening and rare variant discovery10.1038/s41467-021-24387-z2041-1723https://doaj.org/article/a0fdb5cf51d64043aafb63ae5030b0632021-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24387-zhttps://doaj.org/toc/2041-1723Genetic studies on complex traits have revealed a substantial role for common, small-effect polygenic burden and large-effect variants. Here, the authors investigate how these types of variation can inform disease risk stratification and prediction.Dan ZhouDongmei YuJeremiah M. ScharfCarol A. MathewsLauren McGrathEdwin CookS. Hong LeeLea K. DavisEric R. GamazonNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Dan Zhou Dongmei Yu Jeremiah M. Scharf Carol A. Mathews Lauren McGrath Edwin Cook S. Hong Lee Lea K. Davis Eric R. Gamazon Contextualizing genetic risk score for disease screening and rare variant discovery
description	Genetic studies on complex traits have revealed a substantial role for common, small-effect polygenic burden and large-effect variants. Here, the authors investigate how these types of variation can inform disease risk stratification and prediction.
format	article
author	Dan Zhou Dongmei Yu Jeremiah M. Scharf Carol A. Mathews Lauren McGrath Edwin Cook S. Hong Lee Lea K. Davis Eric R. Gamazon
author_facet	Dan Zhou Dongmei Yu Jeremiah M. Scharf Carol A. Mathews Lauren McGrath Edwin Cook S. Hong Lee Lea K. Davis Eric R. Gamazon
author_sort	Dan Zhou
title	Contextualizing genetic risk score for disease screening and rare variant discovery
title_short	Contextualizing genetic risk score for disease screening and rare variant discovery
title_full	Contextualizing genetic risk score for disease screening and rare variant discovery
title_fullStr	Contextualizing genetic risk score for disease screening and rare variant discovery
title_full_unstemmed	Contextualizing genetic risk score for disease screening and rare variant discovery
title_sort	contextualizing genetic risk score for disease screening and rare variant discovery
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a0fdb5cf51d64043aafb63ae5030b063
work_keys_str_mv	AT danzhou contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT dongmeiyu contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT jeremiahmscharf contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT carolamathews contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT laurenmcgrath contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT edwincook contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT shonglee contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT leakdavis contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery AT ericrgamazon contextualizinggeneticriskscorefordiseasescreeningandrarevariantdiscovery
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Contextualizing genetic risk score for disease screening and rare variant discovery

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