title: Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
abstract: Copy number variants (CNVs) account for the majority of human genomic diversity in terms of base coverage. Here, we have developed and applied a new method to combine high-resolution array comparative genomic hybridization (CGH) data with whole-genome DNA sequencing data to obtain a comprehensive catalog of common CNVs in Asian individuals. The genomes of 30 individuals from three Asian populations (Korean, Chinese and Japanese) were interrogated with an ultra-high-resolution array CGH platform containing 24 million probes. Whole-genome sequencing data from a reference genome (NA10851, with 28.3x coverage) and two Asian genomes (AK1, with 27.8x coverage and AK2, with 32.0x coverage) were used to transform the relative copy number information obtained from array CGH experiments into absolute copy number values. We discovered 5,177 CNVs, of which 3,547 were putative Asian-specific CNVs. These common CNVs in Asian populations will be a useful resource for subsequent genetic studies in these populations, and the new method of calling absolute CNVs will be essential for applying CNV data to personalized medicine.
authors.affiliation: Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea.
authors.forename: Hansoo
authors.initials: H
authors.lastname: Park
authors.forename: Jong-Il
authors.initials: JI
authors.lastname: Kim
authors.forename: Young Seok
authors.initials: YS
authors.lastname: Ju
authors.forename: Omer
authors.initials: O
authors.lastname: Gokcumen
authors.forename: Ryan E
authors.initials: RE
authors.lastname: Mills
authors.forename: Sheehyun
authors.initials: S
authors.lastname: Kim
authors.forename: Seungbok
authors.initials: S
authors.lastname: Lee
authors.forename: Dongwhan
authors.initials: D
authors.lastname: Suh
authors.forename: Dongwan
authors.initials: D
authors.lastname: Hong
authors.forename: Hyunseok Peter
authors.initials: HP
authors.lastname: Kang
authors.forename: Yun Joo
authors.initials: YJ
authors.lastname: Yoo
authors.forename: Jong-Yeon
authors.initials: JY
authors.lastname: Shin
authors.forename: Hyun-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Maryam
authors.initials: M
authors.lastname: Yavartanoo
authors.forename: Young Wha
authors.initials: YW
authors.lastname: Chang
authors.forename: Jung-Sook
authors.initials: JS
authors.lastname: Ha
authors.forename: Wilson
authors.initials: W
authors.lastname: Chong
authors.forename: Ga-Ram
authors.initials: GR
authors.lastname: Hwang
authors.forename: Katayoon
authors.initials: K
authors.lastname: Darvishi
authors.forename: Hyeran
authors.initials: H
authors.lastname: Kim
authors.forename: Song Ju
authors.initials: SJ
authors.lastname: Yang
authors.forename: Kap-Seok
authors.initials: KS
authors.lastname: Yang
authors.forename: Hyungtae
authors.initials: H
authors.lastname: Kim
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Carter
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Charles
authors.initials: C
authors.lastname: Lee
authors.forename: Jeong-Sun
authors.initials: JS
authors.lastname: Seo
mesh_terms: D000465:Algorithms; D044466:Asian People; D002681:China; D002874:Chromosome Mapping; D019295:Computational Biology / Q000379:methods; D030541:Databases, Genetic; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D007564:Japan; D007723:Korea; D008986:Mongolia; D009693:Nucleic Acid Hybridization; D017422:Sequence Analysis, DNA / Q000379:methods*