Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays 英文参考文献.docVIP

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Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays 英文参考文献.doc

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Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays 英文参考文献

ResolvingIndividualsContributingTraceAmountsof DNAtoHighlyComplexMixturesUsingHigh-Density SNPGenotypingMicroarrays NilsHomer1,2,SzabolcsSzelinger1,MargotRedman1,DavidDuggan1,WaibhavTembe1,JillMuehling1, JohnV.Pearson1,DietrichA.Stephan1,StanleyF.Nelson2,DavidW.Craig1* 1Translational Genomics Research Institute (TGen), Phoenix, Arizona, United States of America, 2University of California Los Angeles, Los Angeles, California, United StatesofAmerica Abstract Weusehigh-densitysinglenucleotidepolymorphism(SNP)genotypingmicroarraystodemonstratetheabilitytoaccurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical frameworkfordetectinganindividual’spresencewithinamixture,thenshow,throughsimulations,thelimitsassociated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individualswithinaseriesofhighlycomplexgenomicmixtures,includingmixtureswhereanindividualcontributeslessthan 0.1%ofthetotalgenomicDNA.ThesefindingsshifttheperceivedutilityofSNPsforidentifyingindividualtracecontributors withinaforensicsmixture,andsuggestfutureresearcheffortsintoassessingtheviabilityofpreviouslysub-optimalDNA sourcesduetosamplecontamination.Thesefindingsalsosuggestthatcompositestatisticsacrosscohorts,suchasallele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findingsarediscussed. Citation: HomerN,SzelingerS,RedmanM,DugganD,TembeW,etal.(2008)ResolvingIndividualsContributingTraceAmounts ofDNAtoHighlyComplex MixturesUsingHigh-DensitySNPGenotypingMicroarrays.PLoSGenet4(8):e1000167.doi:10.1371/journal.pgen.1000167 Editor:PeterM.Visscher,QueenslandInstituteofMedicalResearch,Australia ReceivedDecember7,2007;AcceptedJuly15,2008;PublishedAugust29,2008 Copyright: ? 2008 Homer et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which per