Title |
Detection limit of intragenic deletions with targeted array comparative genomic hybridization
|
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Published in |
BMC Genomic Data, December 2013
|
DOI | 10.1186/1471-2156-14-116 |
Pubmed ID | |
Authors |
S Hussain Askree, Ephrem LH Chin, Lora H Bean, Bradford Coffee, Alice Tanner, Madhuri Hegde |
Abstract |
Pathogenic mutations range from single nucleotide changes to deletions or duplications that encompass a single exon to several genes. The use of gene-centric high-density array comparative genomic hybridization (aCGH) has revolutionized the detection of intragenic copy number variations. We implemented an exon-centric design of high-resolution aCGH to detect single- and multi-exon deletions and duplications in a large set of genes using the OGT 60 K and 180 K arrays. Here we describe the molecular characterization and breakpoint mapping of deletions at the smaller end of the detectable range in several genes using aCGH. |
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