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1、Downloadedfromgut.bmj.comonFebruary10,2014-Publishedbygroup.bmj.comRecentadvancesinbasicscienceNextgenerationsequencingandaneweraofmedicine1112GrahamCasey,DavidConti,RobertHaile,DavidDuggan1DepartmentofPreventiveINTRODUCTIONspreadadoptionoffirstgenerationsequencingforMedicine,KeckSc
2、hoolofthThe10anniversaryofthepublicationofthefirstindividualhumangenomesequencing.Medicine,Universityofdraftsequenceofthehumangenomewascele-NGStechnologiesaddressbothoftheselimita-SouthernCalifornia,Losbratedrecently,followingthelaunchoftheHumantionsandrelyonacombinationofnovelDNAAn
3、geles,California,USA12TheTranslationalGenomicsGenomeProjectin1990.Now,10yearslater,templatepreparation,massivelyparallelsequencingResearchInstitute(TGen),ahumangenomecanbesequencedinlessthan10ofhundredsofmillionstobillionsofindividualPhoenix,Arizona,USAdaysandsoonwillbesequencedrou
4、tinelywithinDNAtemplatesandimagecaptureinrealtime,aday.Thisremarkableprogressisduetosignificantfollowedbygenomesequencealignment,sequenceCorrespondencetoadvancesinDNAsequencingtechnologiesfromassemblyandvariantdetection.HundredsofDrGrahamCasey,DepartmentofPreventiveMedicine,KeckSang
5、ersequencingthathasbeendominantformillionstobillionsofindividualsequencingreac-SchoolofMedicine,Universitynearly30yearstonextgenerationsequencingtions(35e400bpinlength)canbeperformedatofSouthernCalifornia,Los(NGS,alsotermedmassivelyparallelsequencing).onetime.Asaresultofthesetechno
6、logicalAngeles,CA90033,USA;Theabilitytorapidlysequencehumangenomesimprovementsandhigh-throughput,priceshavegcasey@usc.eduandtogenerategenetic,transcriptomic,epigeneticfallenprecipitouslyandawholegenomesequencePublishedOnlineFirstdataandothergenome-widedataforarelativelynowcosts<$50
7、00andevenlessforlowercoverage1May2012smallcostopensupnumerousopportunitiesfor(eg,<$1500for103genomecoverage).Thistranslationintotheclinicoverthenextfewyears.reductionincostcanbeattributedtoimprove-CantheknowledgegainedthroughNGSadvancesmentsintemplatecapacityperinstrument,leadtoper
8、sonalizedmedicineforcancer
