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Article

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Genome research - 1 Sept 2013

Boone Philip M, Campbell Ian M, Baggett Brett C, Soens Zachry T, Rao Mitchell M, Hixson Patricia M, Patel Ankita, Bi Weimin, Cheung Sau Wai, Lalani Seema R, Beaudet Arthur L, Stankiewicz Pawel, Shaw Chad A, Lupski James R

Abstract excerpt

Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs) to carrier status and recessive disease. We mined CNV data from 21,470 individuals obtained by array-comparative genomic hybridization in a clinical diagnostic...

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Share to Comparative Genomic Hybridization
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

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Share to Genes, Dominant

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Share to Genetic Diseases, Inborn

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Identifiers

PMID: 23685542
DOI: 10.1101/gr.156075.113
PMCID: PMC3759716

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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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