Annotating pathogenic non-coding variants in genic regions

While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding geneti...

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Main Authors:	Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein
Format:	article
Language:	EN
Published:	Nature Portfolio 2017
Subjects:	Science Q
Online Access:	https://doaj.org/article/416a7ceb757b4b1cb818a138ccea63b5
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spelling	oai:doaj.org-article:416a7ceb757b4b1cb818a138ccea63b52021-12-02T13:24:33ZAnnotating pathogenic non-coding variants in genic regions10.1038/s41467-017-00141-22041-1723https://doaj.org/article/416a7ceb757b4b1cb818a138ccea63b52017-08-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-00141-2https://doaj.org/toc/2041-1723While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.Sahar GelfmanQuanli WangK. Melodi McSweeneyZhong RenFrancesca La CarpiaMatt HalvorsenKelly SchochFanni RatzonErin L. HeinzenMichael J. BolandSlavé PetrovskiDavid B. GoldsteinNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Sahar Gelfman Quanli Wang K. Melodi McSweeney Zhong Ren Francesca La Carpia Matt Halvorsen Kelly Schoch Fanni Ratzon Erin L. Heinzen Michael J. Boland Slavé Petrovski David B. Goldstein Annotating pathogenic non-coding variants in genic regions
description	While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.
format	article
author	Sahar Gelfman Quanli Wang K. Melodi McSweeney Zhong Ren Francesca La Carpia Matt Halvorsen Kelly Schoch Fanni Ratzon Erin L. Heinzen Michael J. Boland Slavé Petrovski David B. Goldstein
author_facet	Sahar Gelfman Quanli Wang K. Melodi McSweeney Zhong Ren Francesca La Carpia Matt Halvorsen Kelly Schoch Fanni Ratzon Erin L. Heinzen Michael J. Boland Slavé Petrovski David B. Goldstein
author_sort	Sahar Gelfman
title	Annotating pathogenic non-coding variants in genic regions
title_short	Annotating pathogenic non-coding variants in genic regions
title_full	Annotating pathogenic non-coding variants in genic regions
title_fullStr	Annotating pathogenic non-coding variants in genic regions
title_full_unstemmed	Annotating pathogenic non-coding variants in genic regions
title_sort	annotating pathogenic non-coding variants in genic regions
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/416a7ceb757b4b1cb818a138ccea63b5
work_keys_str_mv	AT sahargelfman annotatingpathogenicnoncodingvariantsingenicregions AT quanliwang annotatingpathogenicnoncodingvariantsingenicregions AT kmelodimcsweeney annotatingpathogenicnoncodingvariantsingenicregions AT zhongren annotatingpathogenicnoncodingvariantsingenicregions AT francescalacarpia annotatingpathogenicnoncodingvariantsingenicregions AT matthalvorsen annotatingpathogenicnoncodingvariantsingenicregions AT kellyschoch annotatingpathogenicnoncodingvariantsingenicregions AT fanniratzon annotatingpathogenicnoncodingvariantsingenicregions AT erinlheinzen annotatingpathogenicnoncodingvariantsingenicregions AT michaeljboland annotatingpathogenicnoncodingvariantsingenicregions AT slavepetrovski annotatingpathogenicnoncodingvariantsingenicregions AT davidbgoldstein annotatingpathogenicnoncodingvariantsingenicregions
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Annotating pathogenic non-coding variants in genic regions

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