Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

Pathogenicity scores are instrumental in prioritizing variants for Mendelian disease, yet their application to common disease is largely unexplored. Here, the authors assess the utility of pathogenicity scores for 41 complex traits and develop a framework to improve their informativeness for common...

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Autores principales:	Samuel S. Kim, Kushal K. Dey, Omer Weissbrod, Carla Márquez-Luna, Steven Gazal, Alkes L. Price
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a9c384dedfce4fe695bcccca771f0514
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spelling	oai:doaj.org-article:a9c384dedfce4fe695bcccca771f05142021-12-02T13:57:56ZImproving the informativeness of Mendelian disease-derived pathogenicity scores for common disease10.1038/s41467-020-20087-22041-1723https://doaj.org/article/a9c384dedfce4fe695bcccca771f05142020-12-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-20087-2https://doaj.org/toc/2041-1723Pathogenicity scores are instrumental in prioritizing variants for Mendelian disease, yet their application to common disease is largely unexplored. Here, the authors assess the utility of pathogenicity scores for 41 complex traits and develop a framework to improve their informativeness for common disease.Samuel S. KimKushal K. DeyOmer WeissbrodCarla Márquez-LunaSteven GazalAlkes L. PriceNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Samuel S. Kim Kushal K. Dey Omer Weissbrod Carla Márquez-Luna Steven Gazal Alkes L. Price Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
description	Pathogenicity scores are instrumental in prioritizing variants for Mendelian disease, yet their application to common disease is largely unexplored. Here, the authors assess the utility of pathogenicity scores for 41 complex traits and develop a framework to improve their informativeness for common disease.
format	article
author	Samuel S. Kim Kushal K. Dey Omer Weissbrod Carla Márquez-Luna Steven Gazal Alkes L. Price
author_facet	Samuel S. Kim Kushal K. Dey Omer Weissbrod Carla Márquez-Luna Steven Gazal Alkes L. Price
author_sort	Samuel S. Kim
title	Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
title_short	Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
title_full	Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
title_fullStr	Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
title_full_unstemmed	Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease
title_sort	improving the informativeness of mendelian disease-derived pathogenicity scores for common disease
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/a9c384dedfce4fe695bcccca771f0514
work_keys_str_mv	AT samuelskim improvingtheinformativenessofmendeliandiseasederivedpathogenicityscoresforcommondisease AT kushalkdey improvingtheinformativenessofmendeliandiseasederivedpathogenicityscoresforcommondisease AT omerweissbrod improvingtheinformativenessofmendeliandiseasederivedpathogenicityscoresforcommondisease AT carlamarquezluna improvingtheinformativenessofmendeliandiseasederivedpathogenicityscoresforcommondisease AT stevengazal improvingtheinformativenessofmendeliandiseasederivedpathogenicityscoresforcommondisease AT alkeslprice improvingtheinformativenessofmendeliandiseasederivedpathogenicityscoresforcommondisease
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Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

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