ArticleHuman heredity2012
Identification of rare variants from exome sequence in a large pedigree with autism.
Article in Human heredity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Distinct protein profiles in cord blood plasma of children with autism spectrum disorder.Scientific reports · 2025Article
- Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology.Psychiatry investigation · 2016Review
- Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.PloS one · 2016Article
- PBAP: a pipeline for file processing and quality control of pedigree data with dense genetic markers.Bioinformatics (Oxford, England) · 2015Article
- A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.Nature biotechnology · 2014Article
- Detection of Mendelian consistent genotyping errors in pedigrees.Genetic epidemiology · 2014Article
- Some surprising twists on the road to discovering the contribution of rare variants to complex diseases.Human heredity · 2012Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
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 sequencing. Genome-scan marker genotypes were available on most subjects, and exome sequence data was available on 5 subjects. We used genome-scan linkage analysis to identify and prioritize the chromosome 22 region of interest, and to select subjects for exome sequencing. Inheritance vectors (IVs) generated by Markov chain Monte Carlo analysis of multilocus marker data were the foundation of most analyses. Genotype imputation used IVs to determine which sequence variants reside on the haplotype that co-segregates with the autism diagnosis. Together with a rare-allele frequency filter, we identified only one rare variant on the risk haplotype, illustrating the potential of this approach to prioritize variants. The associated gene, MYH9, is biologically unlikely, and we speculate that for this complex trait, the key variants may lie outside the exome.
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Registered trials
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