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Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH

de Bustos, Cecilia, Díaz de Ståhl, Teresita, Piotrowski, Arkadiusz, Mantripragada, Kiran Kumar, Buckley, Patrick G., Darai, Eva, Hansson, Caisa M., Grigelionis, Gintautas, Menzel, Uwe and Dumanski, Jan P. 2006. Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH. Genomics 88 (2) , pp. 152-162. 10.1016/j.ygeno.2006.03.016

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Abstract

A previously detected copy number polymorphism (Ep CNP) in patients affected with neuroectodermal tumors led us to investigate its frequency and length in the normal population. For this purpose, a program called Sequence Allocator was developed and applied for the construction of an array that consisted of unique and duplicated fragments, allowing the assessment of copy number variation within regions of segmental duplications. The average resolution of this array was I I kb and we determined the size of the Ep CNP to be 290 kb. Analysis of normal controls identified 7.7 and 7.1% gains in peripheral blood and lymphoblastoid cell line (LCL) DNA, respectively, while deletions were found only in the LCL group (7.1%). This array platform allows the detection of DNA copy number variation within regions of pronounced genomic complexity, which constitutes an improvement over available technologies. (c) 2006 Elsevier Inc. All rights reserved.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0888-7543
Last Modified: 04 Jun 2017 08:40
URI: http://orca.cf.ac.uk/id/eprint/82451

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