myKaryoView A Light-Weight Client for Visualization of Genomic Data 英文参考文献.docVIP

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myKaryoView A Light-Weight Client for Visualization of Genomic Data 英文参考文献.doc

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myKaryoView A Light-Weight Client for Visualization of Genomic Data 英文参考文献

myKaryoView:ALight-WeightClientforVisualizationof GenomicData RafaelC.Jimenez1,GustavoA.Salazar2,BernatGel3,JoaquinDopazo4,5,NicolaMulder2 ,Manuel Corpas6* 1European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom, 2Computational Biology Group, Department of Clinical Laboratory Sciences, IIDMM, University of Cape Town, Cape Town, South Africa, 3Universitat Polite`cnica de Catalunya, Barcelona, Spain, 4Centro de Investigacio′n Pr?′ncipeFelipe,Valencia,Spain,5FunctionalGenomicsNode(INB),CIPF,Valencia,Spain,6WellcomeTrustSangerInstitute,WellcomeTrustGenomeCampus,Hinxton, Cambridge,UnitedKingdom Abstract TheDistributedAnnotationSystem(DAS)isaprotocolforeasysharingandintegrationofbiologicalannotations.Inorderto visualizefeatureannotationsinagenomiccontextaclientisrequired.HerewepresentmyKaryoView,asimplelight-weight DAS tool for visualization of genomic annotation. myKaryoView has been specifically configured to help analyse data derived from personal genomics, although it can also be used as a generic genome browser visualization. Several well- knowndatasources areprovided tofacilitate comparisonofknowngenesandnormalvariationregions.Thenavigation experienceisenhancedbysimultaneousrenderingofdifferentlevelsofdetailacrosschromosomes.Asimpleinterfaceis providedtoallowsearchesforanySNP,geneorchromosomalregion.User-definedDASdatasourcesmayalsobeadded whenqueryingthesystem.WedemonstratemyKaryoViewcapabilitiesforaddinguser-definedsourceswithasetofgenetic profiles of family-related individuals downloaded directly from 23andMe. myKaryoView is a web tool for visualization of genomic data specifically designed for direct-to-consumer genomic data that uses publicly available data distributed throughouttheInternet.Itdoesnotrequiredatatobeheldlocallyanditiscapableofrenderinganyfeatureaslongasit conformstoDASspecifications.ConfigurationandadditionofsourcestomyKaryoViewcanbedonethroughtheinterface. HereweshowaproofofprincipleofmyKaryoView’s