De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo genotypes to CHD in 2391 trios and find them to be...

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Autores principales:	W. Scott Watkins, E. Javier Hernandez, Sergiusz Wesolowski, Brent W. Bisgrove, Ryan T. Sunderland, Edwin Lin, Gordon Lemmon, Bradley L. Demarest, Thomas A. Miller, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Christine E. Seidman, Yufeng Shen, H. Joseph Yost, Mark Yandell, Martin Tristani-Firouzi
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/8135b5f4cd6b48d3b81b0a72c696e63e
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spelling	oai:doaj.org-article:8135b5f4cd6b48d3b81b0a72c696e63e2021-12-02T17:01:47ZDe novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes10.1038/s41467-019-12582-y2041-1723https://doaj.org/article/8135b5f4cd6b48d3b81b0a72c696e63e2019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12582-yhttps://doaj.org/toc/2041-1723Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo genotypes to CHD in 2391 trios and find them to be associated with different gene functions.W. Scott WatkinsE. Javier HernandezSergiusz WesolowskiBrent W. BisgroveRyan T. SunderlandEdwin LinGordon LemmonBradley L. DemarestThomas A. MillerDaniel BernsteinMartina BruecknerWendy K. ChungBruce D. GelbElizabeth GoldmuntzJane W. NewburgerChristine E. SeidmanYufeng ShenH. Joseph YostMark YandellMartin Tristani-FirouziNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q W. Scott Watkins E. Javier Hernandez Sergiusz Wesolowski Brent W. Bisgrove Ryan T. Sunderland Edwin Lin Gordon Lemmon Bradley L. Demarest Thomas A. Miller Daniel Bernstein Martina Brueckner Wendy K. Chung Bruce D. Gelb Elizabeth Goldmuntz Jane W. Newburger Christine E. Seidman Yufeng Shen H. Joseph Yost Mark Yandell Martin Tristani-Firouzi De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
description	Large whole-exome sequencing studies have suggested that the genetic architecture of syndromic congenital heart disease (CHD) is different from sporadic forms. Here, Watkins et al. estimate the relative contribution of damaging recessive and de novo genotypes to CHD in 2391 trios and find them to be associated with different gene functions.
format	article
author	W. Scott Watkins E. Javier Hernandez Sergiusz Wesolowski Brent W. Bisgrove Ryan T. Sunderland Edwin Lin Gordon Lemmon Bradley L. Demarest Thomas A. Miller Daniel Bernstein Martina Brueckner Wendy K. Chung Bruce D. Gelb Elizabeth Goldmuntz Jane W. Newburger Christine E. Seidman Yufeng Shen H. Joseph Yost Mark Yandell Martin Tristani-Firouzi
author_facet	W. Scott Watkins E. Javier Hernandez Sergiusz Wesolowski Brent W. Bisgrove Ryan T. Sunderland Edwin Lin Gordon Lemmon Bradley L. Demarest Thomas A. Miller Daniel Bernstein Martina Brueckner Wendy K. Chung Bruce D. Gelb Elizabeth Goldmuntz Jane W. Newburger Christine E. Seidman Yufeng Shen H. Joseph Yost Mark Yandell Martin Tristani-Firouzi
author_sort	W. Scott Watkins
title	De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
title_short	De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
title_full	De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
title_fullStr	De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
title_full_unstemmed	De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
title_sort	de novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/8135b5f4cd6b48d3b81b0a72c696e63e
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De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

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