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《Single-Step Capture and Sequencing of Natural DNA forDetection of BRCA1 Mutations 天然DNA的单步捕获和测序 BRCA1基因突变的检测》由会员上传分享，免费在线阅读，更多相关内容在学术论文-天天文库。
1、Downloadedfromgenome.cshlp.orgonAugust13,2018-PublishedbyColdSpringHarborLaboratoryPressSingle-StepCaptureandSequencingofNaturalDNAforDetectionofBRCA1MutationsJohnF.Thompson*,JeffreyG.Reifenberger*,EldarGiladi,KristenKerouac,JaimeGill,ErikHansen,AvakKahvejian,PhilipKapranov,TravisKnope,Dor
2、onLipson,KathleenE.Steinmann,andPatriceM.MilosHelicosBioSciencesCorporationOneKendallSquare,Building200Cambridge,MA02139*Theseauthorscontributedequallytothepublication.Correspondingauthor:JohnF.Thompsonjthompson@helicosbio.comPhone:617-264-1888FAX:617-264-1700Runningtitle:BRCA1mutationsvia
3、single-stepcapture/sequencingKeywords:NextGenerationSequencing,cancer,targetedcapturePage1Downloadedfromgenome.cshlp.orgonAugust13,2018-PublishedbyColdSpringHarborLaboratoryPressAbstractGenetictestingfordiseaseriskisanincreasinglyimportantcomponentofmedicalcare.However,testingcanbeexpensiv
4、ewhichcanleadtopatientsandphysicianshavinglimitedaccesstothegeneticinformationneededformedicaldecisions.TosimplifyDNAsamplepreparationandlowercosts,wehavedevelopedasysteminwhichanygenecanbecapturedandsequenceddirectlyfromhumangenomicDNAwithoutamplification,usingnoproteinsorenzymespriortose
5、quencing.Extractedwhole-genomeDNAisacousticallyshearedandloadedinaflowcellchannelforsingle-moleculesequencing.Geneisolation,amplification,orligationisnotnecessary.AccurateandlowcostdetectionofDNAsequencevariantsisdemonstratedfortheBRCA1gene.Disease-causingmutationsaswellascommonvariantsfro
6、mwell-characterizedsamplesareidentified.Single-moleculesequencinggeneratesveryreproduciblecoveragepatternsandthesecanbeusedtodetectanysizeinsertionordeletiondirectly,unlikePCR-basedmethodswhichrequireadditionalassays.Becausenogeneisolationoramplificationisrequiredforsequencing,theexception
7、allylowcostsofsamplepreparationandanalysiscouldmakegenetictestsmoreaccessibletothosewhowishtoknowtheirowndiseasesusceptibility.Additionally,thisapproachhasapplicationsforsequencingintegrationsitesforgenetherapyvectors,transposons,retroviruses,andothermobileDNA
