Gene Size Matters 英文参考文献.docVIP

GeneSizeMatters AlexandraMirina1,GilAtzmon2,3,KennyYe4*.,AvivBergman1*. 1DepartmentofSystemsandComputationalBiology,AlbertEinsteinCollegeofMedicine,Bronx,NewYork,UnitedStatesofAmerica,2DepartmentofGenetics,Albert EinsteinCollegeofMedicine,Bronx,NewYork,UnitedStatesofAmerica,3DepartmentofMedicine,AlbertEinsteinCollegeofMedicine,Bronx,NewYork,UnitedStatesof America,4DepartmentofEpidemiologyandPopulationHealth,AlbertEinsteinCollegeofMedicine,Bronx,NewYork,UnitedStatesofAmerica Abstract Inthisworkweshowthatingenome-wideassociationstudies(GWAS)thereisastrongbiasfavoringofgenescoveredby largernumbersofSNPs.Thus,westateherethatthereisaneedforcorrectionforsuchbiaswhenperformingdownstream gene-level analysis, e.g. pathway analysis and gene-set analysis. We investigate several methods of obtaining gene level statisticalsignificanceinGWAS,andcomparetheireffectivenessincorrectingsuchbias.Wealsoproposeasimplealgorithm basedonfirstorderstatisticthatcorrectssuchbias. Citation:MirinaA,AtzmonG,YeK,BergmanA(2012)GeneSizeMatters.PLoSONE7(11):e49093.doi:10.1371/journal.pone.0049093 Editor:ChunyuLiu,UniversityofIllinoisatChicago,UnitedStatesofAmerica ReceivedJune26,2012;AcceptedOctober8,2012;PublishedNovember9,2012 Copyright: ? 2012 Mirina etal. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding:ThisworkwassupportedbyEllisonMedicalFoundationSeniorScholarAwardAG-SS-2235(/)andNationalInstitutes of Health grants R01-AG028872 and Project-1 of P01-AG027734 (/). The funders had no role in study design, data collection and analysis, decisiontopublish,orpreparationofthemanuscript. CompetingInterests:Theauthorshavedeclaredthatnocompetinginterestsexist. *E-mail:kenny.ye@(KY);aviv@(AB) .Theseauthorscontributedequallytothiswork. Introduction population and 6% in the case population. The power to detect thedifferenceis3610