Frequency and Complexity of De Novo Structural Mutation in Autism.

doi:10.1016/j.ajhg.2016.02.018

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Article

Frequency and Complexity of De Novo Structural Mutation in Autism.

American journal of human genetics - 7 Apr 2016

Brandler William M, Antaki Danny, Gujral Madhusudan, Noor Amina, Rosanio Gabriel, Chapman Timothy R, Barrera Daniel J, Lin Guan Ning, Malhotra Dheeraj, Watts Amanda C, Wong Lawrence C, Estabillo Jasper A, Gadomski Therese E, Hong Oanh, Fajardo Karin V Fuentes, Bhandari Abhishek, Owen Renius, Baughn Michael, Yuan Jeffrey, Solomon Terry, Moyzis Alexandra G, Maile Michelle S, Sanders Stephan J, Reiner Gail E, Vaux Keith K, Strom Charles M, Zhang Kang, Muotri Alysson R, Akshoomoff Natacha, Leal Suzanne M, Pierce Karen, Courchesne Eric, Iakoucheva Lilia M, Corsello Christina, Sebat Jonathan

Abstract excerpt

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...

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Identifiers

PMID: 27018473
DOI: 10.1016/j.ajhg.2016.02.018
PMCID: PMC4833290

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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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