Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to interpreting LoF variants in different contexts.

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Autores principales:	Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/fa612e5114724713a9157e555a8858b1
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spelling	oai:doaj.org-article:fa612e5114724713a9157e555a8858b12021-12-02T17:06:31ZUsing ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes10.1038/s41467-017-00443-52041-1723https://doaj.org/article/fa612e5114724713a9157e555a8858b12017-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-00443-5https://doaj.org/toc/2041-1723Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to interpreting LoF variants in different contexts.Suganthi BalasubramanianYao FuMayur PawashePatrick McGillivrayMike JinJeremy LiuKonrad J. KarczewskiDaniel G. MacArthurMark GersteinNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Suganthi Balasubramanian Yao Fu Mayur Pawashe Patrick McGillivray Mike Jin Jeremy Liu Konrad J. Karczewski Daniel G. MacArthur Mark Gerstein Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
description	Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to interpreting LoF variants in different contexts.
format	article
author	Suganthi Balasubramanian Yao Fu Mayur Pawashe Patrick McGillivray Mike Jin Jeremy Liu Konrad J. Karczewski Daniel G. MacArthur Mark Gerstein
author_facet	Suganthi Balasubramanian Yao Fu Mayur Pawashe Patrick McGillivray Mike Jin Jeremy Liu Konrad J. Karczewski Daniel G. MacArthur Mark Gerstein
author_sort	Suganthi Balasubramanian
title	Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
title_short	Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
title_full	Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
title_fullStr	Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
title_full_unstemmed	Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
title_sort	using aloft to determine the impact of putative loss-of-function variants in protein-coding genes
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/fa612e5114724713a9157e555a8858b1
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Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

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