title: Germ-line DNA copy number variation frequencies in a large North American population.
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.
authors.affiliation: Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada.
authors.forename: George
authors.initials: G
authors.lastname: Zogopoulos
authors.forename: Kevin C H
authors.initials: KC
authors.lastname: Ha
authors.forename: Faisal
authors.initials: F
authors.lastname: Naqib
authors.forename: Sara
authors.initials: S
authors.lastname: Moore
authors.forename: Hyeja
authors.initials: H
authors.lastname: Kim
authors.forename: Alexandre
authors.initials: A
authors.lastname: Montpetit
authors.forename: Frederick
authors.initials: F
authors.lastname: Robidoux
authors.forename: Philippe
authors.initials: P
authors.lastname: Laflamme
authors.forename: Michelle
authors.initials: M
authors.lastname: Cotterchio
authors.forename: Celia
authors.initials: C
authors.lastname: Greenwood
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Brent
authors.initials: B
authors.lastname: Zanke
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Hudson
authors.forename: Gary D
authors.initials: GD
authors.lastname: Bader
authors.forename: Steven
authors.initials: S
authors.lastname: Gallinger
mesh_terms: D000368:Aged; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D005854:Germ Cells / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D009864:Ontario; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012042:Registries
chemical_list: D004247:DNA