A Platform of Comprehensive Genomics Solutions for AnalyzingFFPE Archival Tissues from Whole-Genome to Single Molecules一种综合基因组学分析平台 从全基因组到单分子的FFPE档案组织

A Platform of Comprehensive Genomics Solutions for AnalyzingFFPE Archival Tissues from Whole-Genome to Single Molecules一种综合基因组学分析平台 从全基因组到单分子的FFPE档案组织

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时间:2019-08-08

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1、APlatformofComprehensiveGenomicsSolutionsforAnalyzingFFPEArchivalTissuesfromWhole-GenometoSingleMoleculesIntroductionDiscoveringbiomarkersanddevelopingclinicalsignaturesfromFFPEtissueCancerisacomplexandheterogeneousdiseaseandanincreasinglyleadingcauseofdeathworldwide.However,thereremains

2、muchtobediscoveredaboutcancerbiology,diseaseprogression,andtherapy.Itiswidelyrecognizedthatcurrenttreatmentmethodsarelargelyineffectiveforthemajorityofpatients,andcancerresearchers,pathologists,oncologists,andsurgeonsbelievethatadeeperunderstandingofcancergeneticswillbeimperativeinidenti

3、fyingbettertreatmentmodels.Meanwhile,fueledbynext-generationsequencingandmicroarraytechnologies,discoveriesofpotentiallycausativemutations,structuralandtranscriptionalvariations,andrelatedmoleculareventsaboundandwillneedtobereplicated,validated,andultimatelytranslatedintomedicalpractice.

4、Totacklethechallengeofvalidation,researchersbelievethatformalin-fixedparaffin-embedded(FFPE)canceroustissues,especiallythosewithgoodclinicalannotation,willprovetobeanimportantresourcetoacceleratethisprocess.Unfortunately,therearesignificantinherentissuesassociatedwiththeuseFFPEsamples.Fo

5、rmalinisnotoriouslyharshoncellularandgeneticmaterial,andstorageinparaffincausesdegradationovertime;thus,nucleicacidsextractedfromarchivedFFPEsamplescanbedifficulttoanalyzeduetonucleicacidfragmentation,nucleotidebasemodification,andcross-linkingofnucleicacidstoproteinwithinthesamplematrix

6、.Additionally,PCRreactionsofDNAandRNAderivedfromFFPEsamplesmaysufferfrominhibi-tionandamplificationbias,leadingtopoorsensitivityandaccuracy.Tissuesamplesaretypicallyheterogeneouscombinationsofcancercells,someofwhichmaybegeneticallyvariableaswellasbeingcontaminatedwithnormalcells.Furtherm

7、ore,tissuesofinterestaretypicallyonlyavailableinsmallquantities,presentingchallengeswhenmultiplegenesandreplicatemeasurementsarerequired.Assuch,researcherswillbenefitmostfromgeneticanalysistechnologiesthatcanperformwellwithsmallamountsoflikelyheterogeneousandoftendegraded

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