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- Title
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.
- Authors
Hansoo Park; Jong-Il Kim; Young Seok Ju; Omer Gokcumen; Ryan E Mills; Sheehyun Kim; Seungbok Lee; Dongwhan Suh; Dongwan Hong; Hyunseok Peter Kang; Yun Joo Yoo; Jong-Yeon Shin; Hyun-Jin Kim; Maryam Yavartanoo; Young Wha Chang; Jung-Sook Ha; Wilson Chong; Ga-Ram Hwang; Katayoon Darvishi; HyeRan Kim
- 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 28.3× coverage) and two Asian genomes (AK1, with 27.8× coverage and AK2, with 32.0× 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.
- Publication
Nature Genetics, 2010, Vol 42, Issue 5, p400
- ISSN
1061-4036
- Publication type
Academic Journal
- DOI
10.1038/ng.555