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1、ACMGStandardsandGuidelines©AmericanCollegeofMedicalGeneticsandGenomics©AmericanCollegeofMedicalGeneticsandGenomicsACMGStAndArdSAndGuidelineSStandardsandguidelinesfortheinterpretationofsequencevariants:ajointconsensusrecommendationoftheAmericanCollegeofMedicalGeneticsandGenomicsandth
2、eAssociationforMolecularPathologySue Richards,PhD1,Nazneen Aziz,PhD2,16,Sherri Bale,PhD3,David Bick,MD4,Soma Das,PhD5,Julie Gastier-Foster,PhD6,7,8,Wayne W. Grody,MD,PhD9,10,11,Madhuri Hegde,PhD12,Elaine Lyon,PhD13,Elaine Spector,PhD14,Karl Voelkerding,MD13andHeidi L. Rehm,PhD15;onb
3、ehalfoftheACMGLaboratoryQualityAssuranceCommitteeDisclaimer:TheseACMGStandardsandGuidelinesweredevelopedprimarilyasaneducationalresourceforclinicallaboratorygeneticiststohelpthempro-videqualityclinicallaboratoryservices.Adherencetothesestandardsandguidelinesisvoluntaryanddoesnotnece
4、ssarilyassureasuccessfulmedicaloutcome.TheseStandardsandGuidelinesshouldnotbeconsideredinclusiveofallproperproceduresandtestsorexclusiveofotherproceduresandteststhatarereason-ablydirectedtoobtainingthesameresults.Indeterminingtheproprietyofanyspecificprocedureortest,theclinicallabor
5、atorygeneticistshouldapplyhisorherownprofessionaljudgmenttothespecificcircumstancespresentedbytheindividualpatientorspecimen.Clinicallaboratorygeneticistsareencouragedtodocumentinthepatient’srecordtherationalefortheuseofaparticularprocedureortest,whetherornotitisinconformancewiththe
6、seStandardsandGuide-lines.Theyalsoareadvisedtotakenoticeofthedateanyparticularguidelinewasadoptedandtoconsiderotherrelevantmedicalandscientificinformationthatbecomesavailableafterthatdate.Italsowouldbeprudenttoconsiderwhetherintellectualpropertyinterestsmayrestricttheperformanceofce
7、rtaintestsandotherprocedures.TheAmericanCollegeofMedicalGeneticsandGenomics(ACMG)exomes,andgenomes.Thisreportrecommendstheuseofspecificstan-previouslydevelopedguidancefortheinterpretationofsequencedardterminology—“pathogenic,”“likelypathogenic,”“uncertainsig-variants.1Inthepastdecad
8、e,sequencingtechnol
