A Comprehensive Analysis of Common Copy-number Variations in the Human Genome

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2006 Dec 13

PMID 17160897

Citations 225

Authors

Kendy K Wong

Ronald J deLeeuw

Nirpjit S Dosanjh

Lindsey R Kimm

Ze Cheng

Douglas E Horsman

Calum MacAulay

Raymond T Ng

Carolyn J Brown

Evan E Eichler

Wan L Lam

Affiliations

Soon will be listed here.

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.

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