2020
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, Saksena G, Ellrott K, Wendl M, Wheeler D, Getz G, Simpson J, Gerstein M, Ding L. Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nature Communications 2020, 11: 4748. PMID: 32958763, PMCID: PMC7505971, DOI: 10.1038/s41467-020-18151-y.Peer-Reviewed Original Research
2017
MiRIAD update: using alternative polyadenylation, protein interaction network analysis and additional species to enhance exploration of the role of intragenic miRNAs and their host genes
Hinske L, dos Santos F, Ohara D, Ohno-Machado L, Kreth S, Galante P. MiRIAD update: using alternative polyadenylation, protein interaction network analysis and additional species to enhance exploration of the role of intragenic miRNAs and their host genes. Database 2017, 2017: bax053. PMID: 29220447, PMCID: PMC5569676, DOI: 10.1093/database/bax053.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDatabases, GeneticEpigenomicsHumansMicroRNAsPolyadenylationProtein Interaction MappingUser-Computer Interface
2014
HUGO: Hierarchical mUlti-reference Genome cOmpression for aligned reads
Li P, Jiang X, Wang S, Kim J, Xiong H, Ohno-Machado L. HUGO: Hierarchical mUlti-reference Genome cOmpression for aligned reads. Journal Of The American Medical Informatics Association 2014, 21: 363-373. PMID: 24368726, PMCID: PMC3932469, DOI: 10.1136/amiajnl-2013-002147.Peer-Reviewed Original ResearchConceptsBase quality valuesCompression algorithmStorage savingsGenome compressionSequence Alignment/Map (SAM) formatCompression ratioNovel compression algorithmComparable compression ratioCompression mechanismK-means clusteringDifferent reference genomesQuality valuesDecompression qualityLossless compressionExecution timeCompression rateAligned readsMap formatAlgorithmBiomedical communityDifferent quality valuesExperimental datasetsAdaptive schemeStorage capabilityArchivingPhenDisco: phenotype discovery system for the database of genotypes and phenotypes
Doan S, Lin K, Conway M, Ohno-Machado L, Hsieh A, Feupe S, Garland A, Ross M, Jiang X, Farzaneh S, Walker R, Alipanah N, Zhang J, Xu H, Kim H. PhenDisco: phenotype discovery system for the database of genotypes and phenotypes. Journal Of The American Medical Informatics Association 2014, 21: 31-36. PMID: 23989082, PMCID: PMC3912702, DOI: 10.1136/amiajnl-2013-001882.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsDatabases, GeneticGenome-Wide Association StudyGenotypeHumansInformation SystemsPhenotypeSubject HeadingsConceptsNew information retrieval systemInformation retrieval systemsInformation retrieval toolsDatabase of GenotypesText processing toolsRetrieval systemSearch scenariosDiscovery systemRetrieval toolsAuthorized usersNon-standardized wayCross-study validationSearch comparisonProcessing toolsPromising performanceUsersPhenotype informationDatabaseInformationBiotechnology InformationQueriesMetadataEntrezResourcesSystemmiRIAD—integrating microRNA inter- and intragenic data
Hinske L, França G, Torres H, Ohara D, Lopes-Ramos C, Heyn J, Reis L, Ohno-Machado L, Kreth S, Galante P. miRIAD—integrating microRNA inter- and intragenic data. Database 2014, 2014: bau099. PMID: 25288656, PMCID: PMC4186326, DOI: 10.1093/database/bau099.Peer-Reviewed Original ResearchConceptsProtein-coding genesIntragenic miRNAsHost genesGene expressionProtein-protein interaction dataSmall non-coding RNAsHost gene functionHost gene expressionMiRNA binding sitesNon-coding RNAsMajority of miRNAsGene functionGenomic contextFunctional annotationFunctional network analysisTarget mRNAsExpression correlationExonic regionsGenesMiRNAsDifferent tissuesInteraction dataBinding sitesGenomic classificationSilico validation
2013
Sharing data for the public good and protecting individual privacy: informatics solutions to combine different goals
Ohno-Machado L. Sharing data for the public good and protecting individual privacy: informatics solutions to combine different goals. Journal Of The American Medical Informatics Association 2013, 20: 1-1. PMID: 23243087, PMCID: PMC3555342, DOI: 10.1136/amiajnl-2012-001513.Commentaries, Editorials and Letters
2012
SurfaceomeDB: a cancer-orientated database for genes encoding cell surface proteins.
de Souza J, Galante P, de Almeida R, da Cunha J, Ohara D, Ohno-Machado L, Old L, de Souza S. SurfaceomeDB: a cancer-orientated database for genes encoding cell surface proteins. Cancer Immunology Research 2012, 12: 15. PMID: 23390370, PMCID: PMC3554024.Peer-Reviewed Original ResearchConceptsCell surface proteinsSurface proteinsProtein-protein interactionsUCSC Genome BrowserImportant data repositoryUser-friendly web interfaceGene annotationProtein domainsGenome browserHuman genesGene expressionGene namesGenesSomatic mutationsProteinExcellent targetAnnotationTherapeutic reagentsWeb interfaceNCBIMutationsExpressionDomainTargetDoubly Optimized Calibrated Support Vector Machine (DOC-SVM): An Algorithm for Joint Optimization of Discrimination and Calibration
Jiang X, Menon A, Wang S, Kim J, Ohno-Machado L. Doubly Optimized Calibrated Support Vector Machine (DOC-SVM): An Algorithm for Joint Optimization of Discrimination and Calibration. PLOS ONE 2012, 7: e48823. PMID: 23139819, PMCID: PMC3490990, DOI: 10.1371/journal.pone.0048823.Peer-Reviewed Original Research
2010
Assessing the quality of annotations in asthma gene expression experiments
Lacson R, Mbagwu M, Yousif H, Ohno-Machado L. Assessing the quality of annotations in asthma gene expression experiments. BMC Bioinformatics 2010, 11: s8. PMID: 21044366, PMCID: PMC2967749, DOI: 10.1186/1471-2105-11-s9-s8.Peer-Reviewed Original Research
2009
Towards large-scale sample annotation in gene expression repositories
Pitzer E, Lacson R, Hinske C, Kim J, Galante P, Ohno-Machado L. Towards large-scale sample annotation in gene expression repositories. BMC Bioinformatics 2009, 10: s9. PMID: 19761579, PMCID: PMC2745696, DOI: 10.1186/1471-2105-10-s9-s9.Peer-Reviewed Original ResearchEvaluation of a large-scale biomedical data annotation initiative
Lacson R, Pitzer E, Hinske C, Galante P, Ohno-Machado L. Evaluation of a large-scale biomedical data annotation initiative. BMC Bioinformatics 2009, 10: s10. PMID: 19761564, PMCID: PMC2745681, DOI: 10.1186/1471-2105-10-s9-s10.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsComputational BiologyDatabases, GeneticGene Expression ProfilingInformation Storage and Retrieval
2004
Genomic Analysis of Mouse Retinal Development
Blackshaw S, Harpavat S, Trimarchi J, Cai L, Huang H, Kuo W, Weber G, Lee K, Fraioli R, Cho S, Yung R, Asch E, Ohno-Machado L, Wong W, Cepko C. Genomic Analysis of Mouse Retinal Development. PLOS Biology 2004, 2: e247. PMID: 15226823, PMCID: PMC439783, DOI: 10.1371/journal.pbio.0020247.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBromodeoxyuridineCell LineageChromosome MappingCluster AnalysisComputational BiologyDatabases, GeneticExpressed Sequence TagsGene Expression RegulationGene Expression Regulation, DevelopmentalGene LibraryGenomeIn Situ HybridizationInterneuronsMiceMitosisMolecular Sequence DataNeurogliaOpen Reading FramesRetinaRNA, MessengerStem CellsTime FactorsConceptsMitotic progenitor cellsRetinal cell typesGene expressionCell typesExpression patternsRetinal developmentDevelopmental gene expression patternsGene expression patternsMajor retinal cell typesOpen reading frameProgenitor cellsMüller gliaPhotoreceptor-enriched genesGene expression profilesMouse retinal developmentMajor cell typesRetinal disease genesGenomic analysisMultiple retinal cell typesChromosomal intervalMolecular atlasMultiple transcriptsReading frameTaxonomic classificationDisease genes