Ontology highlight
ABSTRACT:
SUBMITTER: Turner TN
PROVIDER: S-EPMC5679715 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Cell 20170928 3
To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064 individuals). This resource includes >59 million single-nucleotide variants (SNVs) and 9,212 private copy number variants (CNVs), of which 133,992 and 88 are de novo mutations (DNMs), respectively. We estimate a mutation rate of ∼1.5 × 10<sup>-8</sup> SNVs per site per generation with a significantly higher mutation rate in repetitive DNA. Comp ...[more]