Ontology highlight
ABSTRACT:
SUBMITTER: Brandler WM
PROVIDER: S-EPMC6449150 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Brandler William M WM Antaki Danny D Gujral Madhusudan M Kleiber Morgan L ML Whitney Joe J Maile Michelle S MS Hong Oanh O Chapman Timothy R TR Tan Shirley S Tandon Prateek P Pang Timothy T Tang Shih C SC Vaux Keith K KK Yang Yan Y Harrington Eoghan E Juul Sissel S Turner Daniel J DJ Thiruvahindrapuram Bhooma B Kaur Gaganjot G Wang Zhuozhi Z Kingsmore Stephen F SF Gleeson Joseph G JG Bisson Denis D Kakaradov Boyko B Telenti Amalio A Venter J Craig JC Corominas Roser R Toma Claudio C Cormand Bru B Rueda Isabel I Guijarro Silvina S Messer Karen S KS Nievergelt Caroline M CM Arranz Maria J MJ Courchesne Eric E Pierce Karen K Muotri Alysson R AR Iakoucheva Lilia M LM Hervas Amaia A Scherer Stephen W SW Corsello Christina C Sebat Jonathan J
Science (New York, N.Y.) 20180401 6386
The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD. In a discovery cohort of 829 families, structural ...[more]