Germ-line DNA copy number variation frequencies in a large North American population.

by: George Zogopoulos, Kevin C Ha, Faisal Naqib, Sara Moore, Hyeja Kim, Alexandre Montpetit, Frederick Robidoux, Philippe Laflamme, Michelle Cotterchio, Celia Greenwood, Stephen W Scherer, Brent Zanke, Thomas J Hudson, Gary D Bader, Steven Gallinger

Hum Genet (19 July 2007)

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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.

@article{citeulike:1529091, 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.}, address = {Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada.}, author = {Zogopoulos, George and Ha, Kevin C. and Naqib, Faisal and Moore, Sara and Kim, Hyeja and Montpetit, Alexandre and Robidoux, Frederick and Laflamme, Philippe and Cotterchio, Michelle and Greenwood, Celia and Scherer, Stephen W. and Zanke, Brent and Hudson, Thomas J. and Bader, Gary D. and Gallinger, Steven }, citeulike-article-id = {1529091}, issn = {0340-6717}, journal = {Hum Genet}, keywords = {cnv}, month = {July}, posted-at = {2007-08-01 22:26:18}, priority = {5}, title = {Germ-line DNA copy number variation frequencies in a large North American population.}, url = {http://dx.doi.org/10.1007/s00439-007-0404-5}, year = {2007} }

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TY - JOUR ID - citeulike:1529091 L3 - citeulike-article-id:1529091 TI - Germ-line DNA copy number variation frequencies in a large North American population. JF - Hum Genet AD - Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada. SN - 0340-6717 N2 - 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. KW - cnv AU - Zogopoulos, George AU - Ha, Kevin AU - Naqib, Faisal AU - Moore, Sara AU - Kim, Hyeja AU - Montpetit, Alexandre AU - Robidoux, Frederick AU - Laflamme, Philippe AU - Cotterchio, Michelle AU - Greenwood, Celia AU - Scherer, Stephen AU - Zanke, Brent AU - Hudson, Thomas AU - Bader, Gary AU - Gallinger, Steven PY - 2007/07/19/ UR - http://dx.doi.org/10.1007/s00439-007-0404-5 ER -

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