Article
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
Cell reports - 9 Oct 2014
Dong Shan, Walker Michael F, Carriero Nicholas J, DiCola Michael, Willsey A Jeremy, Ye Adam Y, Waqar Zainulabedin, Gonzalez Luis E, Overton John D, Frahm Stephanie, Keaney John F, Teran Nicole A, Dea Jeanselle, Mandell Jeffrey D, Hus Bal Vanessa, Sullivan Catherine A, DiLullo Nicholas M, Khalil Rehab O, Gockley Jake, Yuksel Zafer, Sertel Sinem M, Ercan-Sencicek A Gulhan, Gupta Abha R, Mane Shrikant M, Sheldon Michael, Brooks Andrew I, Roeder Kathryn, Devlin Bernie, State Matthew W, Wei Liping, Sanders Stephan J
Abstract excerpt
Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de novo insertions and deletions (indels) have limited inclusion of these variants in prior analyses. By applying a robust indel detection method to WES data from 787 ASD families (2,963...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.