Rates of contributory de novo mutation in high and low-risk autism families

Yoon, Munoz, et al. investigate the rate of de novo coding and non-coding variants in families with high- and low-risk for autism using whole-genome sequence data from collections of families with autism. They demonstrate that de novo intronic variants increase the risk of autism, that the contribut...

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Autores principales:	Seungtai Yoon, Adriana Munoz, Boris Yamrom, Yoon-ha Lee, Peter Andrews, Steven Marks, Zihua Wang, Catherine Reeves, Lara Winterkorn, Abba M. Krieger, Andreas Buja, Kith Pradhan, Michael Ronemus, Kristin K. Baldwin, Dan Levy, Michael Wigler, Ivan Iossifov
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/436481e0995849c1abbd8e86fd1fda39
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spelling	oai:doaj.org-article:436481e0995849c1abbd8e86fd1fda392021-12-02T15:28:56ZRates of contributory de novo mutation in high and low-risk autism families10.1038/s42003-021-02533-z2399-3642https://doaj.org/article/436481e0995849c1abbd8e86fd1fda392021-09-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-02533-zhttps://doaj.org/toc/2399-3642Yoon, Munoz, et al. investigate the rate of de novo coding and non-coding variants in families with high- and low-risk for autism using whole-genome sequence data from collections of families with autism. They demonstrate that de novo intronic variants increase the risk of autism, that the contribution of de novo variants is significantly larger in low-risk families, and that de novo variants contribute to 30-39% of cases of all autism.Seungtai YoonAdriana MunozBoris YamromYoon-ha LeePeter AndrewsSteven MarksZihua WangCatherine ReevesLara WinterkornAbba M. KriegerAndreas BujaKith PradhanMichael RonemusKristin K. BaldwinDan LevyMichael WiglerIvan IossifovNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Biology (General) QH301-705.5
spellingShingle	Biology (General) QH301-705.5 Seungtai Yoon Adriana Munoz Boris Yamrom Yoon-ha Lee Peter Andrews Steven Marks Zihua Wang Catherine Reeves Lara Winterkorn Abba M. Krieger Andreas Buja Kith Pradhan Michael Ronemus Kristin K. Baldwin Dan Levy Michael Wigler Ivan Iossifov Rates of contributory de novo mutation in high and low-risk autism families
description	Yoon, Munoz, et al. investigate the rate of de novo coding and non-coding variants in families with high- and low-risk for autism using whole-genome sequence data from collections of families with autism. They demonstrate that de novo intronic variants increase the risk of autism, that the contribution of de novo variants is significantly larger in low-risk families, and that de novo variants contribute to 30-39% of cases of all autism.
format	article
author	Seungtai Yoon Adriana Munoz Boris Yamrom Yoon-ha Lee Peter Andrews Steven Marks Zihua Wang Catherine Reeves Lara Winterkorn Abba M. Krieger Andreas Buja Kith Pradhan Michael Ronemus Kristin K. Baldwin Dan Levy Michael Wigler Ivan Iossifov
author_facet	Seungtai Yoon Adriana Munoz Boris Yamrom Yoon-ha Lee Peter Andrews Steven Marks Zihua Wang Catherine Reeves Lara Winterkorn Abba M. Krieger Andreas Buja Kith Pradhan Michael Ronemus Kristin K. Baldwin Dan Levy Michael Wigler Ivan Iossifov
author_sort	Seungtai Yoon
title	Rates of contributory de novo mutation in high and low-risk autism families
title_short	Rates of contributory de novo mutation in high and low-risk autism families
title_full	Rates of contributory de novo mutation in high and low-risk autism families
title_fullStr	Rates of contributory de novo mutation in high and low-risk autism families
title_full_unstemmed	Rates of contributory de novo mutation in high and low-risk autism families
title_sort	rates of contributory de novo mutation in high and low-risk autism families
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/436481e0995849c1abbd8e86fd1fda39
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Rates of contributory de novo mutation in high and low-risk autism families

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