Ontology highlight
ABSTRACT:
SUBMITTER: Brandler WM
PROVIDER: S-EPMC4833290 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
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]