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Article

The clustering of functionally related genes contributes to CNV-mediated disease.

Genome research - 1 Jun 2015

Andrews Tallulah, Honti Frantisek, Pfundt Rolph, de Leeuw Nicole, Hehir-Kwa Jayne, Vulto-van Silfhout Anneke, de Vries Bert, Webber Caleb

Abstract excerpt

Clusters of functionally related genes can be disrupted by a single copy number variant (CNV). We demonstrate that the simultaneous disruption of multiple functionally related genes is a frequent and significant characteristic of de novo CNVs in patients with developmental disorders (P = 1 × 10(-3)). Using three different functional networks, we identified unexpectedly large numbers of functionally related genes...

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Identifiers

PMID: 25887030
DOI: 10.1101/gr.184325.114
PMCID: PMC4448677

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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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