title: A comprehensive analysis of common copy-number variations in the human genome.
abstract: Segmental copy-number variations (CNVs) in the human genome are associated with developmental disorders and susceptibility to diseases. More importantly, CNVs may represent a major genetic component of our phenotypic diversity. In this study, using a whole-genome array comparative genomic hybridization assay, we identified 3,654 autosomal segmental CNVs, 800 of which appeared at a frequency of at least 3%. Of these frequent CNVs, 77% are novel. In the 95 individuals analyzed, the two most diverse genomes differed by at least 9 Mb in size or varied by at least 266 loci in content. Approximately 68% of the 800 polymorphic regions overlap with genes, which may reflect human diversity in senses (smell, hearing, taste, and sight), rhesus phenotype, metabolism, and disease susceptibility. Intriguingly, 14 polymorphic regions harbor 21 of the known human microRNAs, raising the possibility of the contribution of microRNAs to phenotypic diversity in humans. This in-depth survey of CNVs across the human genome provides a valuable baseline for studies involving human genetics.
authors.affiliation: Department of Cancer Genetics and Developmental Biology, University of British Columbia, Vancouver, BC, Canada. kwong@bccrc.ca
authors.forename: Kendy K
authors.initials: KK
authors.lastname: Wong
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: deLeeuw
authors.forename: Nirpjit S
authors.initials: NS
authors.lastname: Dosanjh
authors.forename: Lindsey R
authors.initials: LR
authors.lastname: Kimm
authors.forename: Ze
authors.initials: Z
authors.lastname: Cheng
authors.forename: Douglas E
authors.initials: DE
authors.lastname: Horsman
authors.forename: Calum
authors.initials: C
authors.lastname: MacAulay
authors.forename: Raymond T
authors.initials: RT
authors.lastname: Ng
authors.forename: Carolyn J
authors.initials: CJ
authors.lastname: Brown
authors.forename: Evan E
authors.initials: EE
authors.lastname: Eichler
authors.forename: Wan L
authors.initials: WL
authors.lastname: Lam
mesh_terms: D002874:Chromosome Mapping; D016000:Cluster Analysis; D005260:Female; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D018035:Receptors, Odorant / Q000235:genetics
chemical_list: D018035:Receptors, Odorant