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Article

Identification of rare variants from exome sequence in a large pedigree with autism.

Human heredity - 1 Jan 2012

Marchani E E, Chapman N H, Cheung C Y K, Ankenman K, Stanaway I B, Coon H H, Nickerson D, Bernier R, Brkanac Z, Wijsman E M

Abstract excerpt

We carried out analyses with the goal of identifying rare variants in exome sequence data that contribute to disease risk for a complex trait. We analyzed a large, 47-member, multigenerational pedigree with 11 cases of autism spectrum disorder, using genotypes from 3 technologies representing increasing resolution: a multiallelic linkage marker panel, a dense diallelic marker panel, and variants from exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23594493
DOI: 10.1159/000346560
PMCID: PMC3722055

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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