한빛사 논문
Abstract
Hansoo Park1.4,11, Jong-Il Kim1,4,5,11, Young Seok Ju1,5,11, Omer Gokcumen2,3, Ryan E Mills2,3, Sheehyun Kim1,6, Seungbok Lee1,7, Dongwhan Suh1,7, Dongwan Hong1, Hyunseok Peter Kang1, Yun Joo Yoo1, Jong-Yeon Shin1,4, Hyun-Jin Kim1,7, Maryam Yavartanoo1,5, Young Wha Chang1, Jung-Sook Ha2,3, Wilson Chong2, Ga-Ram Hwang2, Katayoon Darvishi2,3, HyeRan Kim6, Song Ju Yang6, Kap-Seok Yang6, Hyungtae Kim6, Matthew E Hurles8, Stephen W Scherer9,10, Nigel P Carter8, Chris Tyler-Smith8, Charles Lee2,3,12 & Jeong-Sun Seo1,4.7,12
1Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, Korea. 2Department of Pathology, Brigham and Women’s Hospital, Boston, Massachusetts, USA. 3Harvard Medical School, Boston, Massachusetts, USA. 4Psoma Therapeutics Inc., Seoul, Korea. 5Department of Biochemistry and Molecular Biology, Seoul National University College of Medicine, Seoul, Korea. 6Macrogen Inc., Seoul, Korea. 7Department of Biomedical Sciences, Seoul National University Graduate School, Seoul, Korea. 8Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK. 9The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. 10Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. 11These authors contributed equally to this work. 12These authors jointly directed the project. Correspondence should be addressed to J.-S.S. or C.L.
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.
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