Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in gen...

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Autores principales:	M. T. Oetjens, M. A. Kelly, A. C. Sturm, C. L. Martin, D. H. Ledbetter
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/96dda06cd3764488a3d966497943e622
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spelling	oai:doaj.org-article:96dda06cd3764488a3d966497943e6222021-12-02T14:40:20ZQuantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders10.1038/s41467-019-12869-02041-1723https://doaj.org/article/96dda06cd3764488a3d966497943e6222019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12869-0https://doaj.org/toc/2041-1723Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in genome-wide association studies of relevant traits.M. T. OetjensM. A. KellyA. C. SturmC. L. MartinD. H. LedbetterNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q M. T. Oetjens M. A. Kelly A. C. Sturm C. L. Martin D. H. Ledbetter Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
description	Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals. Here, Oetjens et al. systematically study the contribution of common genetic variation to variable expressivity of RGDs and find it is frequently influenced by polygenic factors identified in genome-wide association studies of relevant traits.
format	article
author	M. T. Oetjens M. A. Kelly A. C. Sturm C. L. Martin D. H. Ledbetter
author_facet	M. T. Oetjens M. A. Kelly A. C. Sturm C. L. Martin D. H. Ledbetter
author_sort	M. T. Oetjens
title	Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_short	Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_full	Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_fullStr	Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_full_unstemmed	Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
title_sort	quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/96dda06cd3764488a3d966497943e622
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

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