A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing 英文参考文献.docVIP

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A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing 英文参考文献.doc

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A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing 英文参考文献

APopulationGeneticApproachtoMappingNeurological DisorderGenesUsingDeepResequencing RachelA.Myers1,2,3.,FerranCasals1.,JulieGauthier4,5,FadiF.Hamdan4,5,JonKeebler1,2,3,AdamR. Boyko6,CarlosD.Bustamante6,AmelieM.Piton4,5,DanSpiegelman4,5,EdouardHenrion4,5 ,Martine Zilversmit1,JulieHussin1,JacklynQuinlan1,YanYang4,5,RonaldG.Lafrenie`re4,5,AlexanderR.Griffing3, EricA.Stone3,GuyA.Rouleau2,4,5*,PhilipAwadalla1,2,3,4,5 * 1DepartmentofPediatrics,UniversityofMontreal,Montreal,Canada,2CHUSainte-JustineResearchCentre,UniversityofMontreal,Montreal,Canada,3Bioinformatics ResearchCentre,NorthCarolinaStateUniversity,Raleigh,NorthCarolina,UnitedStatesofAmerica,4CentreofExcellenceinNeuromicsofUniversite′ deMontre′al,Centre Hospitalier de l’Universite′ de Montre′al, Montreal, Canada, 5Department of Medicine, Universite′ of Montre′al, Montreal, Canada, 6Department of Genetics, Stanford UniversitySchoolofMedicine,Stanford,California,UnitedStatesofAmerica Abstract Deep resequencing of functional regions in human genomes is key to identifying potentially causal rare variants for complex disorders. Here, we present the results from a large-sample resequencing (n=285 patients) study of candidate genescoupledwithpopulationgeneticsandstatisticalmethodstoidentifyrarevariantsassociatedwithAutismSpectrum DisorderandSchizophrenia.Threegenes,MAP1A,GRIN2B,andCACNA1F,wereconsistentlyidentifiedbydifferentmethods ashavingsignificantexcessofraremissensemutationsineitheroneorbothdiseasecohorts.Inabroadercontext,wealso foundthattheoverallsitefrequencyspectrumofvariationinthesecasesisbestexplainedbypopulationmodelsofboth selection and complex demography rather than neutral models or models accounting for complex demography alone. Mutationsinthethreedisease-associatedgenesexplainedmuchofthedifferenceintheoverallsitefrequencyspectrum amongthecasesversuscontrols.Thisstudydemonstratesthatgenesassociatedwithcomplexdisorderscanbemapped usingresequencingandanalyticalmethodswithsamplesizesfarsmallerthan