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
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Acceso en línea:https://doaj.org/article/436481e0995849c1abbd8e86fd1fda39
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