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Article

Genomic Patterns of De Novo Mutation in Simplex Autism.

Cell - 19 Oct 2017

Turner Tychele N, Coe Bradley P, Dickel Diane E, Hoekzema Kendra, Nelson Bradley J, Zody Michael C, Kronenberg Zev N, Hormozdiari Fereydoun, Raja Archana, Pennacchio Len A, Darnell Robert B, Eichler Evan E

Abstract excerpt

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 × 10-8 SNVs per site per...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28965761
DOI: 10.1016/j.cell.2017.08.047
PMCID: PMC5679715

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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