Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting

Many genetic variants have been associated with complex congenital disorders, but their function is not always clear. Here, the authors develop a pipeline to functionally characterize such variants, and show potential roles for three SNPs in non-syndromic cleft lip and palate.

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Autores principales: Huan Liu, Elizabeth J. Leslie, Jenna C. Carlson, Terri H. Beaty, Mary L. Marazita, Andrew C. Lidral, Robert A. Cornell
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/d2ec248fe44d4a7987ee187d2090d430
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spelling oai:doaj.org-article:d2ec248fe44d4a7987ee187d2090d4302021-12-02T14:43:00ZIdentification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting10.1038/ncomms147592041-1723https://doaj.org/article/d2ec248fe44d4a7987ee187d2090d4302017-03-01T00:00:00Zhttps://doi.org/10.1038/ncomms14759https://doaj.org/toc/2041-1723Many genetic variants have been associated with complex congenital disorders, but their function is not always clear. Here, the authors develop a pipeline to functionally characterize such variants, and show potential roles for three SNPs in non-syndromic cleft lip and palate.Huan LiuElizabeth J. LeslieJenna C. CarlsonTerri H. BeatyMary L. MarazitaAndrew C. LidralRobert A. CornellNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Huan Liu
Elizabeth J. Leslie
Jenna C. Carlson
Terri H. Beaty
Mary L. Marazita
Andrew C. Lidral
Robert A. Cornell
Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
description Many genetic variants have been associated with complex congenital disorders, but their function is not always clear. Here, the authors develop a pipeline to functionally characterize such variants, and show potential roles for three SNPs in non-syndromic cleft lip and palate.
format article
author Huan Liu
Elizabeth J. Leslie
Jenna C. Carlson
Terri H. Beaty
Mary L. Marazita
Andrew C. Lidral
Robert A. Cornell
author_facet Huan Liu
Elizabeth J. Leslie
Jenna C. Carlson
Terri H. Beaty
Mary L. Marazita
Andrew C. Lidral
Robert A. Cornell
author_sort Huan Liu
title Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
title_short Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
title_full Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
title_fullStr Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
title_full_unstemmed Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
title_sort identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/d2ec248fe44d4a7987ee187d2090d430
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