22302.面向高通量測序的基因組信息可視化技術(shù)研究

1、東南大學碩士學位論文面向高通量測序的基因組信息可視化技術(shù)研究姓名：江棟科申請學位級別：碩士專業(yè)：生物醫(yī)學工程；生物信息學指導教師：孫嘯20110602AbstractThesisTitle：VisualizationTechnologyResearchofGenomeInformationBasedonHighThronghputSequencingMACandidate：JiangDongkeSupervisor：ProSunXiao

2、Institution：SoutheastUniversityWiththedevelopmentofhighthroughputsequencingtechnologyand1000Genomesproject，individualtreatmentisbecomingmoreandmorepracticalIndividualtreatmentdependsonunderstandingindividualgenomesequenc

3、e，analyzingindividualinheritance，searchingmutationsites，discoveringgenesrelatedtodiseaseandpredictingindividualdiseasesusceptibilityPeoplearealwayscaringabouttherelationshipofdisease，geneandmutationWiththequickdevelopmen

4、tofhighthroughputsequencingtechnologytounderstandthatrelationshipbecomesmoredifficultbecauseresearchershavetofacemassdataTohelpresearcherstosolvethisproblem，thisstudywilldiveintothevisualizationtechnologyresearchofgenome

5、informationbasedonhighthroughputsequencingTomeetthisstudy’SrequestwebuilddatabasebasedonwebdevelopenvironmentLAMPTlliSdatabasecollectsinfcrmationof189764genes，18830pairsofrelationshipbetween0MIMandgene，13403pairsofrelati

6、onshipbetweenoMIMandSHIP25311498SNPS101605SVsand24chromosomesW色carefullyselectandcollectallkindsofinformationthenarrangeandimportintodatabaseThedatabase’SsUucRlreiswelldesignedandoptimizedAtlastwebuildGBrowsevisualizatio

7、nwebplatformandprovideannotationandsearchingmethodsforthedatainGBrowseTomaketheresearchofdiseaseandgeneeasywesetupGeneNavi，thevisualizationqueryplatformfordiseaseandgeneUsersCaninputgenes，oMIMnumbersordiseasenamestogetre

8、latedgeneinformationreportThereportprovideanavigationmapandageneannotationlisttheyCanbothprovideconvenientvisualizationtoolandIinkstodetailedannotationsWemakeAutismforexampletheshowtheprocessofinformationintegrationThenw

9、euseGeneNavitobuildailautismgenedatabasewi廿l292genes，thisistheautismgenedatabasewhichhasthemostgenesT0打ytoaccomplishindividualtreatmentwedesignindividualgenomevariationinformationvisualizationanalysisplatformwhichprovide

10、sseveralfunctionslikevariationqueryvariationcheckvariationanalysisanddiseasepredictionThesearealloriginalfunctionsWetaketheindividualsequencingdatain1000GenomesProjeaaSanexampletoshowhowtogetSNPandrelatedOMIMinformationI