Nature刊EJHGGS南布Natue子刊斷南發(fā)布背景紹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檢測前，必須考慮已知診斷率?STATEMENT05:Fordiagnosticpurpose,onlygeneswithaknown(ie,publishedandconfirmed)relationshipbetweentheaberrantgenotypeandthepathologyshouldbeincludedintheanalysis.]??如果目的是診斷，相關(guān)基因必須為明確與疾病相關(guān)?STATEMENT06:Forthesakeofcomparison,toavoidirresponsibletesting,forthebenefitofthepatents,‘corediseasegenelisouldbeestablishedbytheclinicalandlaboratoryexperts.??與疾病相關(guān)的最核心基因列表必須由臨床與檢測機構(gòu)的專家共同決定目的是為了有可比性和完善性?STATEMENT07:Asimpleratingsystemonthebasisofcoverageanddiagnosticyield,shouldallowcomparisonofthediagnostictestingofferbetweenlaboratories.??至少提供最基本的質(zhì)控和檢測結(jié)果，以便不同檢測機構(gòu)之間有可比性?STATEMENT08:ThelaboratoryhastoprovideforeachNGStestthefollowing:thediseasesittargets,thenameofthegenestested,theirreportablerange,theanalyticalsensitivityandspecificity,and,ifpossible,thediseasesnotrelevanttotheclinicalphenotypethatcouldbecausedbymutationsinthetestedgenes.??一）?:esefcdsneelrnnroeefy,ded.?檢測重點應(yīng)該放在與疾病最關(guān)因?T:sldemnneefsfn.??）?T:faalrraaryisoisn,ttolotrasaedsdyslheisdeo.??。?T:elytinfiddyndeerrei.??規(guī)??T:tsodoearnnnaetrlemnri.??書?T:lStyrsdnsiesdecy.??供?T:ecyasontudertaiysrm,)l,d)lesprocessed.??所有相關(guān)質(zhì)控結(jié)果必須整理成數(shù)據(jù)庫（平臺，檢測，樣本）?STATEMENT17:Accuracyandprecisionshouldbepartofthegeneralplatformvalidation,andtheworkdoesnothavetoberepeatedforindividualmethodsortests.??保證平臺的準(zhǔn)確性與精確性，避免不必要的重復(fù)實驗?STATEMENT18:Thebioinformaticspipelinemustbetailoredforthetechnicalplatformused.??生物信息學(xué)流程必須適合技術(shù)平臺?STATEMENT19:Analyticalsensitivityandanalyticalspecificitymustbeestablishedseparatelyforeachtypeofvariantduringpipelinevalidation.??不同種類的變異類型的檢測準(zhǔn)確性必須分別分析（snv，indel）?STATEMENT20:Thediagnosticlaboratoryhastovalidateallpartsofthebioinformaticspipeline(publicdomaintoolsorcommercialsoftwarepackages)withstandarddatasetswheneverrelevantchanges(newreleases)areimplemented.??當(dāng)流程做改動時，必須用標(biāo)準(zhǔn)數(shù)據(jù)檢驗?STATEMENT21:Thediagnosticlaboratoryhastoimplement/useastructureddatabaseforallrelevantvariantswithcurrentannotations.??必須建立本地變異數(shù)據(jù)庫（用于檢驗變異真實性）?STATEMENT22:Thediagnosticlaboratoryhastotakestepsforlong-termstorageofallrelevantdatasets.??需要做長期存儲數(shù)據(jù)的準(zhǔn)備bam，fastq）?STATEMENT23:Thereportablerange,thatis,theportionoftheclinicaltargetforwhichreliablecallscanbegenerated,hastobedefinedduringthetestdevelopmentandshouldbeavailabletotheclinician(eitherinthereportorcommunicateddigitally).??檢測基因的范圍必須提前確定并告知臨床醫(yī)師?STATEMENT24:Therequiremensfor‘reportablerange’depetheimoftheassay.??檢測范圍需根據(jù)檢測的決定???STATEMENT25:Whenevermajorhangesaremaetothetest,qualityparaetershavetobechecked,ndsamplesavetobere-run.helaboraoryshoulddefinebeforehandwhatindofsaplesandthenmberofcaseshathavetobessayedwheneverthemethodisupdaedorupgraded.??當(dāng)必測試。??SM2:eetfaSayodurethepatient’sidetifiationadianoss,ariefdecripionfheest,asmmayofreult,adtheajrfndigsnneae.??檢測告該在頁之包如下容：1.患者身份診信息，2.檢測的概括描，3.結(jié)果總，4.結(jié)論?STATEMENT27:Alocalpolicy,inlinewithinternationalrecommendations,forreportinggenomicvariantsshouldbeestablishedanddocumentedbythelaboratorypriortoprovidinganalysisofthistype.??本地對基因檢測報告的政策法規(guī)必須符合國際標(biāo)準(zhǔn)并在提供相關(guān)檢測服務(wù)之前建立?STATEMENT28:DataonUVshavetobecollected,withtheaimtoeventuallyclassifythesevariantsdefinitively.??意義不明確的結(jié)果必須收集，為了之后確診的可能?STATEMENT29:Laboratoriesshouldhaveaclearlydefinedprotocolforaddressingunsolicitedandsecondaryfindingspriortolaunchingthetest.??檢測機構(gòu)對未明確及次級發(fā)現(xiàn)的處理方案必須提前明確?STATEMENT30:Thelaboratoryisnotexpectedtore-analyzeolddatasystematicallyandreportnovelfindings,notevenwhenthecorediseasegenepanelchanges.??檢測機構(gòu)不應(yīng)該被要求反復(fù)分析檢測報告，即使核心基因penal數(shù)量，即道最結(jié)但情）?SAEET1:oebeongesaeaat,teartrysotupalclainttbefrhdfrndsasfrhchetngsfrdonaciialss.?為便，機該地床疾類異庫?SAEET2:Aantcetsnyetdetedoadseigalnclqetonltdtoamdclodtonfaint.?診檢與疾關(guān)問接關(guān)?SAEET3:Asachetshohssrvnadhotoemyhelmtdciiallvnefrateterlentepoct.?研實設(shè)提果臨導(dǎo)。?SAEET4:erstsfaansicet,riualyyaysofahleeoereoe,aneyohsseeaig.??臨斷轉(zhuǎn)研尤是WES或WGS）但斷只析疾關(guān)。?SAEET5:ansicestataeshirrmymtsrhfradanisnasnletetsudberomdnncrdtdloaoy.?對單，相檢在質(zhì)測行?SAEET6:eacheushveoecnrednacrdtdloaoybfreigtasredoheain.??研結(jié)果患必先資檢構(gòu)意?STATEMENT37:Thefrequencyofallvariantsdetectedinhealthyindividualssequen