clines, clusters, and the effect of study design on the inference of human population structure克莱因、集群和推理的研究设计的影响人口结构.pdfVIP

Clines, Clusters, and the Effect of Study Design on the Inference of Human Population Structure 1* 2 3 4 5 Noah A. Rosenberg , Saurabh Mahajan , Sohini Ramachandran , Chengfeng Zhao , Jonathan K. Pritchard , 3 Marcus W. Feldman 1 Department of Human Genetics, Bioinformatics Program, and the Life Sciences Institute, University of Michigan, Ann Arbor, Michigan, United States of America, 2 Department of Computer Science, University of Southern California, Los Angeles, California, United States of America, 3 Department of Biological Sciences, Stanford University, Stanford, California, United States of America, 4 Mammalian Genotyping Service, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, United States of America, 5 Department of Human Genetics, University of Chicago, Chicago, Illinois, United States of America Previously, we observed that without using prior information about individual sampling locations, a clustering algorithm applied to multilocus genotypes from worldwide human populations produced genetic clusters largely coincident with major geographic regions. It has been argued, however, that the degree of clustering is diminished by use of samples with greater uniformity in geographic distribution, and that the clusters we identified were a consequence of uneven sampling along genetic clines. Expanding our earlier dataset from 377 to 993 markers, we systematically examine the influence of several study design variables—sample size, number of loci, number of clusters, assumptions about correlations in allele frequencies across populations, and the geographic dispersion of the sample—on the ‘‘clustered