基于单核苷酸变异的等位基因选择性剪切模型分析-analysis of allele selective shearing model based on single nucleotide variation.docxVIP

AbstractAsthedevelopmentofsequencingtechnology,humanareslowlyunveiling thesecretofhumangenome.Thefocusofhumangenomeanalysisisstartingto transformfromdecipheringgenecodestoknowingmoreaboutthefunctionof genesandunearththeassociationbetweengeneanddisease.Inarising researchingfieldlikebioinformatics,thestudyofgeneexpressionandtranscript regulationisbecomingmoreandmorepopular.Inthemechanismofgene expressionandtranscriptregulation,alternativesplicinghasbeenplayingakey role.Alternativesplicingnotonlyenrichestheinformationthatgenomecan contain,butalso is highlyrelatedwithdisease.This dissertationproposeda systemthatcanprocessgenedata,andestimatetheexpressionlevelofdifferent allelesanddifferentisoformsofgenesthroughtheanalysisofsinglenucleotide variantsbasedallelespecificalternativesplicing.Sincethealternativeeventsarerathercomplicated, this dissertation proposedasimplermodeltorepresentalternativeeventsinamathematicsway. ThisnewmodeltakesadvantagesofthepotentialinformationinRNA-seqreads thatothermodelsdidnotusetomakeamoreaccurateandstablesolution.The modelproposedinthisdissertationisoptimizedbyparticleswarmoptimization algorithm.Moreover,thisdissertationproposedadataprocesspipethatcan simplifythegenedataforeasieruseinthisandotherstudies.Inthetestingphase, thedata processpipeandmodelingsystembothperformwellinrealdata of U87MGcellsandsimulationdata.Keywords:alternativesplicing,PSO,dataprocessandanalysis,singlenucleotide variants目录摘要..............................................................................................................IAbstract..........................................................................................................II第1章绪论....................................................................................................11.1课题背景及研究意义............................................................................11.1.1 课题研究的背景............................................................................11.1.2 课题研究的目的及意义...........................