Dosage sensitivity is a major determinant of human copy number variant pathogenicity

Copy number variants (CNVs) cause significant genomic variation in humans and may be benign or may cause disease. Here, the authors show that pathogenic CNVs are evolutionarily constrained compared with benign, pointing to dosage sensitivity as a potential cause of disease.

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Detalles Bibliográficos
Autores principales:	Alan M. Rice, Aoife McLysaght
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/82540013994240b098a6e1e5e8b366a8
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spelling	oai:doaj.org-article:82540013994240b098a6e1e5e8b366a82021-12-02T15:37:06ZDosage sensitivity is a major determinant of human copy number variant pathogenicity10.1038/ncomms143662041-1723https://doaj.org/article/82540013994240b098a6e1e5e8b366a82017-02-01T00:00:00Zhttps://doi.org/10.1038/ncomms14366https://doaj.org/toc/2041-1723Copy number variants (CNVs) cause significant genomic variation in humans and may be benign or may cause disease. Here, the authors show that pathogenic CNVs are evolutionarily constrained compared with benign, pointing to dosage sensitivity as a potential cause of disease.Alan M. RiceAoife McLysaghtNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Alan M. Rice Aoife McLysaght Dosage sensitivity is a major determinant of human copy number variant pathogenicity
description	Copy number variants (CNVs) cause significant genomic variation in humans and may be benign or may cause disease. Here, the authors show that pathogenic CNVs are evolutionarily constrained compared with benign, pointing to dosage sensitivity as a potential cause of disease.
format	article
author	Alan M. Rice Aoife McLysaght
author_facet	Alan M. Rice Aoife McLysaght
author_sort	Alan M. Rice
title	Dosage sensitivity is a major determinant of human copy number variant pathogenicity
title_short	Dosage sensitivity is a major determinant of human copy number variant pathogenicity
title_full	Dosage sensitivity is a major determinant of human copy number variant pathogenicity
title_fullStr	Dosage sensitivity is a major determinant of human copy number variant pathogenicity
title_full_unstemmed	Dosage sensitivity is a major determinant of human copy number variant pathogenicity
title_sort	dosage sensitivity is a major determinant of human copy number variant pathogenicity
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/82540013994240b098a6e1e5e8b366a8
work_keys_str_mv	AT alanmrice dosagesensitivityisamajordeterminantofhumancopynumbervariantpathogenicity AT aoifemclysaght dosagesensitivityisamajordeterminantofhumancopynumbervariantpathogenicity
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Dosage sensitivity is a major determinant of human copy number variant pathogenicity

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