GMI_NA10851
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
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.