Ontology highlight
ABSTRACT:
SUBMITTER: Dong S
PROVIDER: S-EPMC4194132 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Dong Shan S Walker Michael F MF Carriero Nicholas J NJ DiCola Michael M Willsey A Jeremy AJ Ye Adam Y AY Waqar Zainulabedin Z Gonzalez Luis E LE Overton John D JD Frahm Stephanie S Keaney John F JF Teran Nicole A NA Dea Jeanselle J Mandell Jeffrey D JD Hus Bal Vanessa V Sullivan Catherine A CA DiLullo Nicholas M NM Khalil Rehab O RO Gockley Jake J Yuksel Zafer Z Sertel Sinem M SM Ercan-Sencicek A Gulhan AG Gupta Abha R AR Mane Shrikant M SM Sheldon Michael M Brooks Andrew I AI Roeder Kathryn K Devlin Bernie B State Matthew W MW Wei Liping L Sanders Stephan J SJ
Cell reports 20141002 1
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; 9 ...[more]