Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data An Online Community Approach 英文参考文献.docVIP

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Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data An Online Community Approach 英文参考文献.doc

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Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data An Online Community Approach 英文参考文献

DiscoveryofWesternEuropeanR1b1a2YChromosome Variantsin1000GenomesProjectData:AnOnline CommunityApproach RichardA.Rocca1*,GregoryMagoon2,DavidF.Reynolds3,ThomasKrahn4,VincentO.Tilroe5, PeterM.OpdenVeldeBoots6,AndrewJ.Grierson7 1Independent Researcher, Saddle Brook, New Jersey, United States of America, 2Independent Researcher, Manchester, Connecticut, United States of America, 3Independent Researcher, Portland, Oregon, United States of America, 4FamilyTreeDNA Genomics Research Center, Houston, Texas, United States of America, 5Independent Researcher, Edmonton, Alberta, Canada, 6Independent Researcher, Amsterdam, North Holland, The Netherlands, 7Sheffield Institute for Translational Neuroscience,UniversityofSheffield,Sheffield,UnitedKingdom Abstract Theauthorshaveusedanonlinecommunityapproach,andtoolsthatwerereadilyavailableviatheInternet,todiscover genealogicallyandthereforephylogeneticallyrelevantY-chromosomepolymorphismswithincorehaplogroupR1b1a2-L11/ S127(rs9786076).Presentedhereistheanalysisof135unrelatedL11derivedsamplesfromthe1000GenomesProject.We wereabletodiscovernewvariantsandbuildamuchmorecomplexphylogeneticrelationshipforL11sub-clades.Manyof thevariantswerefurthervalidatedusingPCRamplificationandSangersequencing.Theidentificationofthesenewvariants will helpfurther the understanding ofpopulation history includingpatrilineal migrations in Westernand CentralEurope whereR1b1a2isthemostfrequenthaplogroup.Thefine-grainedphylogenetictreewepresentherewillalsohelptorefine historical genetic dating studies. Our findings demonstrate the power of citizen science for analysis of whole genome sequencedata. Citation:RoccaRA,MagoonG,ReynoldsDF,KrahnT,TilroeVO,etal.(2012)DiscoveryofWesternEuropeanR1b1a2YChromosomeVariantsin1000Genomes ProjectData:AnOnlineCommunityApproach.PLoSONE7(7):e41634.doi:10.1371/journal.pone.0041634 Editor:ToomasKivisild,UniversityofCambridge,UnitedKingdom ReceivedMarch21,2012;AcceptedJune22,2012;PublishedJuly24,2012 Copyright: ? 2012 Rocca et al.