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.

Bibliographic Details
Main Authors: Huan Liu, Elizabeth J. Leslie, Jenna C. Carlson, Terri H. Beaty, Mary L. Marazita, Andrew C. Lidral, Robert A. Cornell
Format: Article
Language:English
Published: Nature Publishing Group 2017-03-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms14759
id doaj-d2ec248fe44d4a7987ee187d2090d430
record_format Article
spelling doaj-d2ec248fe44d4a7987ee187d2090d4302021-05-11T07:03:37ZengNature Publishing GroupNature Communications2041-17232017-03-018111310.1038/ncomms14759Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial cleftingHuan Liu0Elizabeth J. Leslie1Jenna C. Carlson2Terri H. Beaty3Mary L. Marazita4Andrew C. Lidral5Robert A. Cornell6Department of Anatomy and Cell Biology, College of Medicine, University of IowaDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of PittsburghDepartment of Biostatistics, Graduate School of Public Health, University of PittsburghDepartment of Epidemiology, Bloomberg School of Public Health, Johns Hopkins UniversityDepartment of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of PittsburghDepartment of Orthodontics, College of Dentistry, University of IowaDepartment of Anatomy and Cell Biology, College of Medicine, University of IowaMany 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.https://doi.org/10.1038/ncomms14759
collection DOAJ
language English
format Article
sources DOAJ
author Huan Liu
Elizabeth J. Leslie
Jenna C. Carlson
Terri H. Beaty
Mary L. Marazita
Andrew C. Lidral
Robert A. Cornell
spellingShingle 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
Nature Communications
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 Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2017-03-01
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.
url https://doi.org/10.1038/ncomms14759
work_keys_str_mv AT huanliu identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
AT elizabethjleslie identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
AT jennaccarlson identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
AT terrihbeaty identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
AT marylmarazita identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
AT andrewclidral identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
AT robertacornell identificationofcommonnoncodingvariantsat1p22thatarefunctionalfornonsyndromicorofacialclefting
_version_ 1721452967910965248