Ontology highlight
ABSTRACT:
SUBMITTER: Brandler WM
PROVIDER: S-EPMC4833290 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Brandler William M WM Antaki Danny D Gujral Madhusudan M Noor Amina A Rosanio Gabriel G Chapman Timothy R TR Barrera Daniel J DJ Lin Guan Ning GN Malhotra Dheeraj D Watts Amanda C AC Wong Lawrence C LC Estabillo Jasper A JA Gadomski Therese E TE Hong Oanh O Fajardo Karin V Fuentes KV Bhandari Abhishek A Owen Renius R Baughn Michael M Yuan Jeffrey J Solomon Terry T Moyzis Alexandra G AG Maile Michelle S MS Sanders Stephan J SJ Reiner Gail E GE Vaux Keith K KK Strom Charles M CM Zhang Kang K Muotri Alysson R AR Akshoomoff Natacha N Leal Suzanne M SM Pierce Karen K Courchesne Eric E Iakoucheva Lilia M LM Corsello Christina C Sebat Jonathan J
American journal of human genetics 20160324 4
Genetic studies of autism spectrum disorder (ASD) have established that de novo duplications and deletions contribute to risk. However, ascertainment of structural variants (SVs) has been restricted by the coarse resolution of current approaches. By applying a custom pipeline for SV discovery, genotyping, and de novo assembly to genome sequencing of 235 subjects (71 affected individuals, 26 healthy siblings, and their parents), we compiled an atlas of 29,719 SV loci (5,213/genome), comprising 11 ...[more]