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Article

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

BMC medical genetics - 16 Jul 2014

Qiao Ying, Mercier Eloi, Dastan Jila, Hurlburt Jane, McGillivray Barbara, Chudley Albert E, Farrell Sandra, Bernier Francois P, Lewis Me Suzanne, Pavlidis Paul, Rajcan-Separovic Evica

Abstract excerpt

BACKGROUND: DNA copy number variants (CNVs) are found in 15% of subjects with ID but their association with phenotypic abnormalities has been predominantly studied in smaller cohorts of subjects with detailed yet non-systematically categorized phenotypes, or larger cohorts (thousands of cases) with smaller number of generalized phenotypes. METHODS: We evaluated the association of de novo, familial and common CNVs...

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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: 25030379
DOI: 10.1186/1471-2350-15-82
PMCID: PMC4107469

Provenance

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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