Shan Dong, Michael F Walker, Nicholas J Carriero, Michael DiCola, A Jeremy Willsey, Adam Y Ye, Zainulabedin Waqar, Luis E Gonzalez, John D Overton, Stephanie Frahm, John F Keaney, Nicole A Teran, Jeanselle Dea, Jeffrey D Mandell, Vanessa Hus Bal, Catherine A Sullivan, Nicholas M DiLullo, Rehab O Khalil, Jake Gockley, Zafer Yuksel, Sinem M Sertel, A Gulhan Ercan-Sencicek, Abha R Gupta, Shrikant M Mane, Michael Sheldon, Andrew I Brooks, Kathryn Roeder, Bernie Devlin, Matthew W State, Liping Wei, Stephan J Sanders
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 individuals), we demonstrate that de novo frameshift indels contribute to ASD risk (OR = 1.6; 95% CI = 1.0-2...
October 9, 2014: Cell Reports