Discovery of Rare Variants via Sequencing Implications for the Design of Complex Trait Association Studies 英文参考文献.docVIP

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Discovery of Rare Variants via Sequencing Implications for the Design of Complex Trait Association Studies 英文参考文献.doc

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Discovery of Rare Variants via Sequencing Implications for the Design of Complex Trait Association Studies 英文参考文献

DiscoveryofRareVariantsviaSequencing:Implications fortheDesignofComplexTraitAssociationStudies BingshanLi,SuzanneM.Leal* DepartmentofMolecularandHumanGenetics,BaylorCollegeofMedicine,Houston,Texas,UnitedStatesofAmerica Abstract Thereisstrongevidencethatrarevariantsareinvolvedincomplexdiseaseetiology.Thefirststepinimplicatingrarevariants in disease etiology is their identification through sequencing in both randomly ascertained samples (e.g., the 1,000 GenomesProject)andsamplesascertainedaccordingtodiseasestatus.Weinvestigatedtowhatextentrarevariantswillbe observed across the genome and in candidate genes in randomly ascertained samples, the magnitude of variant enrichmentin diseasedindividuals,andbiases thatcanoccurduetohowvariantsarediscovered.Althoughsequencing casescanenrichforcasualvariants,whenageneorgenesarenotinvolvedindiseaseetiology,limitingvariantdiscoveryto casescanleadtoassociationstudieswithdramaticallyinflatedfalsepositiverates. Citation: Li B, Leal SM (2009) Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies. PLoS Genet 5(5): e1000481.doi:10.1371/journal.pgen.1000481 Editor:DavidB.Allison,UniversityofAlabamaatBirmingham,UnitedStatesofAmerica ReceivedJanuary29,2009;AcceptedApril13,2009;PublishedMay15,2009 Copyright:?2009Li,Leal.Thisisanopen-accessarticledistributedunderthetermsoftheCreativeCommonsAttributionLicense,whichpermitsunrestricted use,distribution,andreproductioninanymedium,providedtheoriginalauthorandsourcearecredited. Funding: This work was funded by National Institutes of Health grant R01-DC03594. The funders had no role in study design, data collection and analysis, decisiontopublish,orpreparationofthemanuscript. CompetingInterests:Theauthorshavedeclaredthatnocompetinginterestsexist. *E-mail:sleal@ Introduction assumption holds that all variants present in a sample can be successfullyidentifiedthroughsequencing(i.e.,nofalsenegatives), variants may not be observed within a sample s