Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

ABSTRACT: The development of high-throughput screening methods such as array-based comparative genome hybridization (array CGH) allows screening of the human genome for copy-number changes. Current array CGH strategies have limits of resolution that make detection of small (less than a few tens of kilobases) gains or losses of genomic DNA difficult to identify. We report here a significant improvement in the resolution of array CGH, with the development of an array platform that utilizes single-stranded DNA array elements to accurately measure copy-number changes of individual exons in the human genome. Using this technology, we screened 31 patient samples across an array containing a total of 162 exons for five disease genes and detected copy-number changes, ranging from whole-gene deletions and du

SUBMITTER: Dhami P 

PROVIDER: S-EPMC1199365 | biostudies-literature | 2005 May

REPOSITORIES: biostudies-literature