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O15: Identification of large-scale human-specific copy number variations by array comparative genomic hybridization

✍ Scribed by Violaine Goidts; Lluis Armengol; Werner Schempp; Jeffrey Conroy; Stefan Müller; Wolfgang Enard; Justyna M. Szamalek; David N. Cooper; Xavier Estivill; Horst Hameister; Hildegard Kehrer-Sawatzki


Book ID
116432886
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
46 KB
Volume
48
Category
Article
ISSN
1769-7212

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Detection of pathogenic gene copy number
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## Communicated by Mireille Claustres Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances associated with clinical syndromes, but also a large number of copy number variations (CNVs), which have co