identification of copy number variants defining genomic differences among major human groups拷贝数变异的识别定义主要人类群体间基因差异.pdfVIP

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identification of copy number variants defining genomic differences among major human groups拷贝数变异的识别定义主要人类群体间基因差异.pdf

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identification of copy number variants defining genomic differences among major human groups拷贝数变异的识别定义主要人类群体间基因差异

Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups ´ 1,2 1 ´ 3 1 ´ ´ 1 Lluıs Armengol , Sergi Villatoro , Juan R. Gonzalez , Lorena Pantano , Manel Garcıa-Aragones , Raquel 1 ´ 1 1,4,5 Rabionet , Mario Caceres , Xavier Estivill * 1 Genetic Causes of Disease Group, Genes and Disease Program, Center for Genomic Regulation (CRG-UPF) and CIBERESP, Barcelona, Catalonia, Spain, 2 Quantitative Genomic Medicine Laboratories (qGenomics), Barcelona, Catalonia, Spain, 3 Center for Research in Environmental Epidemiology (CREAL), Barcelona, Catalonia, Spain, 4 Genetics Unit, Department of Health and Experimental Life Sciences, Pompeu Fabra University (UPF), Barcelona, Catalonia, Spain, 5 National Genotyping Center (CeGen) Barcelona Genotyping Node, Center for Genomic Regulation (CRG-UPF), Barcelona, Catalonia, Spain Abstract Background: Understanding the genetic contribution to phenotype variation of human groups is necessary to elucidate differences in disease predisposition and response to pharmaceutical treatments in different human populations. Methodology/Principal Findings: We have investigated the genome-wide profile of structural variation on pooled samples from the three populations studied in the HapMap project by comparative genome hybridization (CGH) in different array platforms. We have identified and experimentally validated 33 genomic loci that show significant copy number differences from one population to the other. Interestingly, we found an enrichment of genes related to environment adaptation