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
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Acceso en línea:https://doaj.org/article/8110e5bdc6b945b9a1992360b0d095bf
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Sumario: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.