A Quantitative Comparison of the Similarity between Genes and Geography in Worldwide Human Populations 英文参考文献.docVIP

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A Quantitative Comparison of the Similarity between Genes and Geography in Worldwide Human Populations 英文参考文献.doc

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A Quantitative Comparison of the Similarity between Genes and Geography in Worldwide Human Populations 英文参考文献

AQuantitativeComparisonoftheSimilaritybetween GenesandGeographyinWorldwideHumanPopulations ChaolongWang1*,SebastianZo¨llner2,NoahA.Rosenberg3 1Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, United States of America, 2Department of Biostatistics, UniversityofMichigan,AnnArbor,Michigan,UnitedStatesofAmerica,3DepartmentofBiology,StanfordUniversity,Stanford,California,UnitedStatesofAmerica Abstract Multivariate statistical techniques such as principal components analysis (PCA) and multidimensional scaling (MDS) have beenwidelyusedtosummarizethestructureofhumangeneticvariation,oftenineasilyvisualizedtwo-dimensionalmaps. ManyrecentstudieshavereportedsimilaritybetweengeographicmapsofpopulationlocationsandMDSorPCAmapsof geneticvariationinferredfromsingle-nucleotidepolymorphisms(SNPs).However,thissimilarityhasbeenevidentprimarily inaqualitativesense;and,becausedifferentmultivariatetechniquesandmarkersetshavebeenusedindifferentstudies,it hasnotbeenpossibletoformallycomparegeneticvariationdatasetsintermsoftheirlevelsofsimilaritywithgeography.In this study, using genome-wide SNP data from 128 populations worldwide, we perform a systematic analysis to quantitativelyevaluatethesimilarityofgenesandgeographyindifferentgeographicregions.Foreachofaseriesofregions, weapplyaProcrustesanalysisapproachtofindanoptimaltransformationthatmaximizesthesimilaritybetweenPCAmaps ofgeneticvariationandgeographic mapsofpopulationlocations.We considerexamplesinEurope, Sub-SaharanAfrica, Asia,EastAsia,andCentral/SouthAsia,aswellasinaworldwidesample,findingthatsignificantsimilaritybetweengenes andgeographyexistsingeneralatdifferentgeographiclevels.ThesimilarityishighestinourexamplesforAsiaand,once highlydistinctivepopulationshavebeenremoved,Sub-SaharanAfrica.Ourresultsprovideaquantitativeassessmentofthe geographic structure of human genetic variation worldwide, supporting the view that geography plays a strong role in givingrisetohumanpopula