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

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))...

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Publicado en:Genome Res
Main Authors: Andrews, Tallulah, Honti, Frantisek, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne, Vulto-van Silfhout, Anneke, de Vries, Bert, Webber, Caleb
Formato: Artigo
Idioma:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2015
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4448677/
https://ncbi.nlm.nih.gov/pubmed/25887030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.184325.114
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