Genome sequencing of autism families reveals disruption of putative noncoding regulatory DNA

We performed whole-genome sequencing (WGS) of 160 genomes from 40 simplex autism families, the majority of which had no copy number variant (CNV) or candidate de novo gene-disruptive single nucleotide variant (SNV) by microarray or whole-exome sequencing (WES). SNV and CNV calling was achieved by a number of variant calling algorithms. This accession contains SNV (FreeBayes) and CNV (digital comparative genomic hybridization [dCGH], GenomeSTRiP, VariationHunter) calls from this study.