applied statistical genetics with R-for population-based association studies andrea S foulkes.pdf

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1、AndreaS.FoulkesAppliedStatisticalGeneticswithRForPopulation-basedAssociationStudies123AndreaS.FoulkesUniversityofMassachusettsSchoolofPublicHealth&HealthSciences404ArnoldHouse715N.PleasantStreetAmherst,MA01003USAfoulkes@schoolph.umass.eduISBN978-0-387-89553-6e-ISBN978-0-387-89554-3DOI10.1

2、007/978-0-387-89554-3SpringerDordrechtHeidelbergLondonNewYorkLibraryofCongressControlNumber:PCNappliedforcSpringerScience+BusinessMedia,LLC2009Allrightsreserved.Thisworkmaynotbetranslatedorcopiedinwholeorinpartwithoutthewrittenpermissionofthepublisher(SpringerScience+BusinessMedia,LLC,23

3、3SpringStreet,NewYork,NY10013,USA),exceptforbriefexcerptsinconnectionwithreviewsorscholarlyanalysis.Useinconnectionwithanyformofinformationstorageandretrieval,electronicadaptation,computersoftware,orbysimilarordissimilarmethodologynowknownorhereafterdevelopedisforbidden.Theuseinthispublic

4、ationoftradenames,trademarks,servicemarks,andsimilarterms,eveniftheyarenotidenti?edassuch,isnottobetakenasanexpressionofopinionastowhetherornottheyaresubjecttoproprietaryrights.Printedonacid-freepaperSpringerispartofSpringerScience+BusinessMedia(www.springer.com)PrefaceThisbookisintendedt

5、oprovidefundamentalstatisticalconceptsandtoolsrelevanttotheanalysisofgeneticdataarisingfrompopulation-basedassocia-tionstudies.Elementaryknowledgeofstatisticalmethodsatthelevelofarstcourseinbiostatisticsisassumed.Chapters1{3provideageneraloverviewofthegeneticandepidemiologicalconsiderati

6、onsrelevanttothissetting.Topicscoveredinclude:(1)typesofinvestigations,typicaldatacomponentsandfea-turesingeneticassociationstudies,andbasicgeneticvocabulary(Chapter1);(2)epidemiologicalprinciplesrelevanttopopulation-basedstudies,includingconfoundingandeectmodication(Chapter2);(3)elemen

7、tarystatisticalmethodsforestimatingandtestingassociation(Chapter2);(4)theoverarch-inganalyticalchallengesinherentintheseinvestigations(Chapter2);(5)basicgeneticconcepts,includinglinkagedisequilibrium,Hardy-Weinbergequilib-rium,andhaplotypicphase(Chapter3);and(6)qual