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- Title
Germ-line DNA copy number variation frequencies in a large North American population.
- Authors
Zogopoulos, George; Ha, Kevin C H; Naqib, Faisal; Moore, Sara; Kim, Hyeja; Montpetit, Alexandre; Robidoux, Frederick; Laflamme, Philippe; Cotterchio, Michelle; Greenwood, Celia; Scherer, Stephen W; Zanke, Brent; Hudson, Thomas J; Bader, Gary D; Gallinger, Steven
- Abstract
Genomic copy number variation (CNV) is a recently identified form of global genetic variation in the human genome. The Affymetrix GeneChip 100 and 500 K SNP genotyping platforms were used to perform a large-scale population-based study of CNV frequency. We constructed a genomic map of 578 CNV regions, covering approximately 220 Mb (7.3%) of the human genome, identifying 183 previously unknown intervals. Copy number changes were observed to occur infrequently (<1%) in the majority (>93%) of these genomic regions, but encompass hundreds of genes and disease loci. This North American population-based map will be a useful resource for future genetic studies.
- Publication
Human genetics, 2007, Vol 122, Issue 3-4, p345
- ISSN
0340-6717
- Publication type
Journal Article
- DOI
10.1007/s00439-007-0404-5