title: Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation.
abstract: Diagnosing constitutional pathogenic copy number variants requires measuring the submicroscopic segmental chromosomal imbalance. The Affymetrix GeneChip mapping array has been used to measure duplication and deletion of genetic material in DNA samples. This protocol describes the measurement and analysis processes, specifically the computational analyses that are involved in identifying pathogenic copy number variants.
authors.affiliation: Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
authors.forename: Allen D
authors.initials: AD
authors.lastname: Delaney
authors.forename: Hong
authors.initials: H
authors.lastname: Qian
authors.forename: Jan M
authors.initials: JM
authors.lastname: Friedman
authors.forename: Marco A
authors.initials: MA
authors.lastname: Marra
mesh_terms: D000483:Alleles; D019457:Chromosome Breakage; D019295:Computational Biology; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D014644:Genetic Variation; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods* / Q000706:statistics & numerical data; D020641:Polymorphism, Single Nucleotide; D024182:Uniparental Disomy