Article
The contribution of de novo coding mutations to autism spectrum disorder.
Nature - 13 Nov 2014
Iossifov Ivan, O'Roak Brian J, Sanders Stephan J, Ronemus Michael, Krumm Niklas, Levy Dan, Stessman Holly A, Witherspoon Kali T, Vives Laura, Patterson Karynne E, Smith Joshua D, Paeper Bryan, Nickerson Deborah A, Dea Jeanselle, Dong Shan, Gonzalez Luis E, Mandell Jeffrey D, Mane Shrikant M, Murtha Michael T, Sullivan Catherine A, Walker Michael F, Waqar Zainulabedin, Wei Liping, Willsey A Jeremy, Yamrom Boris, Lee Yoon-ha, Grabowska Ewa, Dalkic Ertugrul, Wang Zihua, Marks Steven, Andrews Peter, Leotta Anthony, Kendall Jude, Hakker Inessa, Rosenbaum Julie, Ma Beicong, Rodgers Linda, Troge Jennifer, Narzisi Giuseppe, Yoon Seungtai, Schatz Michael C, Ye Kenny, McCombie W Richard, Shendure Jay, Eichler Evan E, State Matthew W, Wigler Michael
Abstract excerpt
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely gene-disrupting (LGD) mutations contribute to 12% and 9% of diagnoses,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.