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Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions
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Clinical Chemistry
- Article date:
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July 1, 2008
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Copyright informationCopyright American Association for Clinical Chemistry Jul 2008. Provided by ProQuest LLC. (Hide copyright information)
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BACKGROUND: Direct DNA sequencing is the primary clinical technique for identifying mutations in human disease, but sequencing often does not detect intragenic or whole-gene deletions. Oligonucleotide array-based comparative genomic hybridization (CGH) is currently in clinical use to detect major changes in chromosomal copy number.
METHODS: A custom oligonucleotide-based microarray was constructed to provide high-density coverage of an initial set of 130 nuclear genes involved in the pathogenesis of metabolic and mitochondrial disorders. Standard array CGH procedures were used to test patient DNA samples for regions of copy number change. Sequencing of regions of predicted breakpoints in ...
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