Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

GWAS have identified risk loci for osteoarthritis (OA), but the causal variants still have to be determined. Here, the authors apply a massively-parallel reporter assay to screen 1,605 candidate SNPs in 35 OA loci, which prioritizes six SNPs in four loci, one of which, rs4730222, is characterized in...

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Autores principales:	Jason C. Klein, Aidan Keith, Sarah J. Rice, Colin Shepherd, Vikram Agarwal, John Loughlin, Jay Shendure
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/8110e5bdc6b945b9a1992360b0d095bf
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spelling	oai:doaj.org-article:8110e5bdc6b945b9a1992360b0d095bf2021-12-02T14:35:37ZFunctional testing of thousands of osteoarthritis-associated variants for regulatory activity10.1038/s41467-019-10439-y2041-1723https://doaj.org/article/8110e5bdc6b945b9a1992360b0d095bf2019-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10439-yhttps://doaj.org/toc/2041-1723GWAS have identified risk loci for osteoarthritis (OA), but the causal variants still have to be determined. Here, the authors apply a massively-parallel reporter assay to screen 1,605 candidate SNPs in 35 OA loci, which prioritizes six SNPs in four loci, one of which, rs4730222, is characterized in more detail.Jason C. KleinAidan KeithSarah J. RiceColin ShepherdVikram AgarwalJohn LoughlinJay ShendureNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-9 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Jason C. Klein Aidan Keith Sarah J. Rice Colin Shepherd Vikram Agarwal John Loughlin Jay Shendure Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
description	GWAS have identified risk loci for osteoarthritis (OA), but the causal variants still have to be determined. Here, the authors apply a massively-parallel reporter assay to screen 1,605 candidate SNPs in 35 OA loci, which prioritizes six SNPs in four loci, one of which, rs4730222, is characterized in more detail.
format	article
author	Jason C. Klein Aidan Keith Sarah J. Rice Colin Shepherd Vikram Agarwal John Loughlin Jay Shendure
author_facet	Jason C. Klein Aidan Keith Sarah J. Rice Colin Shepherd Vikram Agarwal John Loughlin Jay Shendure
author_sort	Jason C. Klein
title	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
title_short	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
title_full	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
title_fullStr	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
title_full_unstemmed	Functional testing of thousands of osteoarthritis-associated variants for regulatory activity
title_sort	functional testing of thousands of osteoarthritis-associated variants for regulatory activity
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/8110e5bdc6b945b9a1992360b0d095bf
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Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

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