Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disr...

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Autores principales:	Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3
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spelling	oai:doaj.org-article:a1456bc16ed6477cb17105e2253718e32021-12-02T15:00:39ZCharacterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals10.1038/s41467-019-10717-92041-1723https://doaj.org/article/a1456bc16ed6477cb17105e2253718e32020-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10717-9https://doaj.org/toc/2041-1723Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disrupting uORFs.Nicola WhiffinKonrad J. KarczewskiXiaolei ZhangSonia ChothaniMiriam J. SmithD. Gareth EvansAngharad M. RobertsNicholas M. QuaifeSebastian SchaferOwen RackhamJessica AlföldiAnne H. O’Donnell-LuriaLaurent C. FrancioliGenome Aggregation Database Production TeamGenome Aggregation Database ConsortiumStuart A. CookPaul J. R. BartonDaniel G. MacArthurJames S. WareNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Nicola Whiffin Konrad J. Karczewski Xiaolei Zhang Sonia Chothani Miriam J. Smith D. Gareth Evans Angharad M. Roberts Nicholas M. Quaife Sebastian Schafer Owen Rackham Jessica Alföldi Anne H. O’Donnell-Luria Laurent C. Francioli Genome Aggregation Database Production Team Genome Aggregation Database Consortium Stuart A. Cook Paul J. R. Barton Daniel G. MacArthur James S. Ware Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
description	Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disrupting uORFs.
format	article
author	Nicola Whiffin Konrad J. Karczewski Xiaolei Zhang Sonia Chothani Miriam J. Smith D. Gareth Evans Angharad M. Roberts Nicholas M. Quaife Sebastian Schafer Owen Rackham Jessica Alföldi Anne H. O’Donnell-Luria Laurent C. Francioli Genome Aggregation Database Production Team Genome Aggregation Database Consortium Stuart A. Cook Paul J. R. Barton Daniel G. MacArthur James S. Ware
author_facet	Nicola Whiffin Konrad J. Karczewski Xiaolei Zhang Sonia Chothani Miriam J. Smith D. Gareth Evans Angharad M. Roberts Nicholas M. Quaife Sebastian Schafer Owen Rackham Jessica Alföldi Anne H. O’Donnell-Luria Laurent C. Francioli Genome Aggregation Database Production Team Genome Aggregation Database Consortium Stuart A. Cook Paul J. R. Barton Daniel G. MacArthur James S. Ware
author_sort	Nicola Whiffin
title	Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
title_short	Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
title_full	Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
title_fullStr	Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
title_full_unstemmed	Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
title_sort	characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

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