Nature子刊EJHGNGS诊断指南

Nature刊EJHGGS南布Natue子刊断南发布背景绍EH（nlfns于atue子刊，近日布“Guilesordgnticx-eeaineunng”，即S朋。•:Sdtedoltenfesgog.••床•:eysoerretsgdyedoea,rma.••查•:emdeyfetryedtegfendadednen.••告•:naysgSn,ttsorhec.••行NGS检测前，必须考虑已知诊断率•STATEMENT05:Fordiagnosticpurpose,onlygeneswithaknown(ie,publishedandconfirmed)relationshipbetweentheaberrantgenotypeandthepathologyshouldbeincludedintheanalysis.]••如果目的是诊断，相关基因必须为明确与疾病相关•STATEMENT06:Forthesakeofcomparison,toavoidirresponsibletesting,forthebenefitofthepatents,‘corediseasegenelisouldbeestablishedbytheclinicalandlaboratoryexperts.••与疾病相关的最核心基因列表必须由临床与检测机构的专家共同决定目的是为了有可比性和完善性•STATEMENT07:Asimpleratingsystemonthebasisofcoverageanddiagnosticyield,shouldallowcomparisonofthediagnostictestingofferbetweenlaboratories.••至少提供最基本的质控和检测结果，以便不同检测机构之间有可比性•STATEMENT08:ThelaboratoryhastoprovideforeachNGStestthefollowing:thediseasesittargets,thenameofthegenestested,theirreportablerange,theanalyticalsensitivityandspecificity,and,ifpossible,thediseasesnotrelevanttotheclinicalphenotypethatcouldbecausedbymutationsinthetestedgenes.••一）•:esefcdsneelrnnroeefy,ded.•检测重点应该放在与疾病最关因•T:sldemnneefsfn.••）•T:faalrraaryisoisn,ttolotrasaedsdyslheisdeo.••。•T:elytinfiddyndeerrei.••规••T:tsodoearnnnaetrlemnri.••书•T:lStyrsdnsiesdecy.••供•T:ecyasontudertaiysrm,)l,d)lesprocessed.••所有相关质控结果必须整理成数据库（平台，检测，样本）•STATEMENT17:Accuracyandprecisionshouldbepartofthegeneralplatformvalidation,andtheworkdoesnothavetoberepeatedforindividualmethodsortests.••保证平台的准确性与精确性，避免不必要的重复实验•STATEMENT18:Thebioinformaticspipelinemustbetailoredforthetechnicalplatformused.••生物信息学流程必须适合技术平台•STATEMENT19:Analyticalsensitivityandanalyticalspecificitymustbeestablishedseparatelyforeachtypeofvariantduringpipelinevalidation.••不同种类的变异类型的检测准确性必须分别分析（snv，indel）•STATEMENT20:Thediagnosticlaboratoryhastovalidateallpartsofthebioinformaticspipeline(publicdomaintoolsorcommercialsoftwarepackages)withstandarddatasetswheneverrelevantchanges(newreleases)areimplemented.••当流程做改动时，必须用标准数据检验•STATEMENT21:Thediagnosticlaboratoryhastoimplement/useastructureddatabaseforallrelevantvariantswithcurrentannotations.••必须建立本地变异数据库（用于检验变异真实性）•STATEMENT22:Thediagnosticlaboratoryhastotakestepsforlong-termstorageofallrelevantdatasets.••需要做长期存储数据的准备bam，fastq）•STATEMENT23:Thereportablerange,thatis,theportionoftheclinicaltargetforwhichreliablecallscanbegenerated,hastobedefinedduringthetestdevelopmentandshouldbeavailabletotheclinician(eitherinthereportorcommunicateddigitally).••检测基因的范围必须提前确定并告知临床医师•STATEMENT24:Therequiremensfor‘reportablerange’depetheimoftheassay.••检测范围需根据检测的决定•••STATEMENT25:Whenevermajorhangesaremaetothetest,qualityparaetershavetobechecked,ndsamplesavetobere-run.helaboraoryshoulddefinebeforehandwhatindofsaplesandthenmberofcaseshathavetobessayedwheneverthemethodisupdaedorupgraded.••当必测试。••SM2:eetfaSayodurethepatient’sidetifiationadianoss,ariefdecripionfheest,asmmayofreult,adtheajrfndigsnneae.••检测告该在页之包如下容：1.患者身份诊信息，2.检测的概括描，3.结果总，4.结论•STATEMENT27:Alocalpolicy,inlinewithinternationalrecommendations,forreportinggenomicvariantsshouldbeestablishedanddocumentedbythelaboratorypriortoprovidinganalysisofthistype.••本地对基因检测报告的政策法规必须符合国际标准并在提供相关检测服务之前建立•STATEMENT28:DataonUVshavetobecollected,withtheaimtoeventuallyclassifythesevariantsdefinitively.••意义不明确的结果必须收集，为了之后确诊的可能•STATEMENT29:Laboratoriesshouldhaveaclearlydefinedprotocolforaddressingunsolicitedandsecondaryfindingspriortolaunchingthetest.••检测机构对未明确及次级发现的处理方案必须提前明确•STATEMENT30:Thelaboratoryisnotexpectedtore-analyzeolddatasystematicallyandreportnovelfindings,notevenwhenthecorediseasegenepanelchanges.••检测机构不应该被要求反复分析检测报告，即使核心基因penal数量，即道最结但情）•SAEET1:oebeongesaeaat,teartrysotupalclainttbefrhdfrndsasfrhchetngsfrdonaciialss.•为便，机该地床疾类异库•SAEET2:Aantcetsnyetdetedoadseigalnclqetonltdtoamdclodtonfaint.•诊检与疾关问接关•SAEET3:Asachetshohssrvnadhotoemyhelmtdciiallvnefrateterlentepoct.•研实设提果临导。•SAEET4:erstsfaansicet,riualyyaysofahleeoereoe,aneyohsseeaig.••临断转研尤是WES或WGS）但断只析疾关。•SAEET5:ansicestataeshirrmymtsrhfradanisnasnletetsudberomdnncrdtdloaoy.•对单，相检在质测行•SAEET6:eacheushveoecnrednacrdtdloaoybfreigtasredoheain.••研结果患必先资检构意•STATEMENT37:Thefrequencyofallvariantsdetectedinhealthyindividualssequen