2022
The evolving privacy and security concerns for genomic data analysis and sharing as observed from the iDASH competition
Kuo T, Jiang X, Tang H, Wang X, Harmanci A, Kim M, Post K, Bu D, Bath T, Kim J, Liu W, Chen H, Ohno-Machado L. The evolving privacy and security concerns for genomic data analysis and sharing as observed from the iDASH competition. Journal Of The American Medical Informatics Association 2022, 29: 2182-2190. PMID: 36164820, PMCID: PMC9667175, DOI: 10.1093/jamia/ocac165.Peer-Reviewed Original ResearchConceptsSensitive personal informationGenomic data analysisPotential future research directionsPersonal informationSecurity concernsGenomics data repositoryData repositoryReport lessonsProtection techniquesFuture research directionsPrivacyResearch directionsData usePractical challengesGenomic dataData analysisAnonymizationCommunity effortsRepositorySecurityBiomedical researchInformationDataChallengesA research agenda to support the development and implementation of genomics-based clinical informatics tools and resources
Wiley K, Findley L, Goldrich M, Rakhra-Burris T, Stevens A, Williams P, Bult C, Chisholm R, Deverka P, Ginsburg G, Green E, Jarvik G, Mensah G, Ramos E, Relling M, Roden D, Rowley R, Alterovitz G, Aronson S, Bastarache L, Cimino J, Crowgey E, Del Fiol G, Freimuth R, Hoffman M, Jeff J, Johnson K, Kawamoto K, Madhavan S, Mendonca E, Ohno-Machado L, Pratap S, Taylor C, Ritchie M, Walton N, Weng C, Zayas-Cabán T, Manolio T, Williams M. A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources. Journal Of The American Medical Informatics Association 2022, 29: 1342-1349. PMID: 35485600, PMCID: PMC9277642, DOI: 10.1093/jamia/ocac057.Peer-Reviewed Original Research
2021
Benchmarking blockchain-based gene-drug interaction data sharing methods: A case study from the iDASH 2019 secure genome analysis competition blockchain track
Kuo T, Bath T, Ma S, Pattengale N, Yang M, Cao Y, Hudson C, Kim J, Post K, Xiong L, Ohno-Machado L. Benchmarking blockchain-based gene-drug interaction data sharing methods: A case study from the iDASH 2019 secure genome analysis competition blockchain track. International Journal Of Medical Informatics 2021, 154: 104559. PMID: 34474309, PMCID: PMC9933142, DOI: 10.1016/j.ijmedinf.2021.104559.Peer-Reviewed Original ResearchConceptsSecure genome analysis competitionData retrieval queriesBlockchain-based methodData sharing methodReal-world problemsQuery indexType of sharingRetrieval queriesBlockchain technologyLedger technologySource codeBlockchain utilizationBlockchain strategyHealthcare applicationsInteraction recordsSharing methodTest datasetSharing recordsBiomedical research applicationsConsortium resourcesNew platformPatient recordsBlockchainQueriesTechnology
2020
Privacy challenges and research opportunities for genomic data sharing
Bonomi L, Huang Y, Ohno-Machado L. Privacy challenges and research opportunities for genomic data sharing. Nature Genetics 2020, 52: 646-654. PMID: 32601475, PMCID: PMC7761157, DOI: 10.1038/s41588-020-0651-0.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsEXpectation Propagation LOgistic REgRession on permissioned blockCHAIN (ExplorerChain): decentralized online healthcare/genomics predictive model learning
Kuo T, Gabriel R, Cidambi K, Ohno-Machado L. EXpectation Propagation LOgistic REgRession on permissioned blockCHAIN (ExplorerChain): decentralized online healthcare/genomics predictive model learning. Journal Of The American Medical Informatics Association 2020, 27: 747-756. PMID: 32364235, PMCID: PMC7309256, DOI: 10.1093/jamia/ocaa023.Peer-Reviewed Original ResearchConceptsBlockchain technologyCentral serverServer-based methodBenefits of blockchainData protection policiesCentralized serverArtificial intelligenceModel learningDecentralized approachSmall datasetsBlockchainServerComputation strategySingle pointGeneralizable modelCost of efficiencyGenomic datasetsDatasetDistributed modelTechnologyGenomic dataMultiple institutionsDiscrimination powerIntelligencePotential advantages/disadvantages
2019
Fair compute loads enabled by blockchain: sharing models by alternating client and server roles
Kuo T, Gabriel R, Ohno-Machado L. Fair compute loads enabled by blockchain: sharing models by alternating client and server roles. Journal Of The American Medical Informatics Association 2019, 26: 392-403. PMID: 30892656, PMCID: PMC7787356, DOI: 10.1093/jamia/ocy180.Peer-Reviewed Original ResearchEvaluating and sharing global genetic ancestry in biomedical datasets
Harismendy O, Kim J, Xu X, Ohno-Machado L. Evaluating and sharing global genetic ancestry in biomedical datasets. Journal Of The American Medical Informatics Association 2019, 26: 457-461. PMID: 30869786, PMCID: PMC6433181, DOI: 10.1093/jamia/ocy194.Peer-Reviewed Original ResearchConceptsGenetic diversity measurementsGenetic ancestryAvailable molecular datasetsHuman genetics researchCancer Genome Atlas (TCGA) datasetContinental resolutionGenetic diversityPhenotype-genotype associationsMolecular datasetsGlobal genetic ancestryAncestry informationGenetic researchAtlas datasetDiversity measurementsAncestryTraitsGlobal scaleDiversityBiomedical datasetsAvailable datasetsData repositoryDisease riskAccess datasetDatasetAvailable cohorts
2018
Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine
Hindorff L, Bonham V, Ohno-Machado L. Enhancing diversity to reduce health information disparities and build an evidence base for genomic medicine. Personalized Medicine 2018, 15: 403-412. PMID: 30209973, PMCID: PMC6287493, DOI: 10.2217/pme-2018-0037.Peer-Reviewed Original ResearchGenomics and electronic health record systems
Ohno-Machado L, Kim J, Gabriel R, Kuo G, Hogarth M. Genomics and electronic health record systems. Human Molecular Genetics 2018, 27: r48-r55. PMID: 29741693, PMCID: PMC5946823, DOI: 10.1093/hmg/ddy104.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsElectronic health recordsHigh-level viewElectronic health record systemsHealth record systemsNext generation systemsEHR systemsSeamless fashionOpen issuesMyriad of approachesHealth recordsRecord systemSpecific solutionsEnd goalSources of informationAnalysis of genomesInformationCustomizationSystemGeneration systemVisionDegrees of successFunctionality
2017
Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks
Raisaro J, Tramèr F, Ji Z, Bu D, Zhao Y, Carey K, Lloyd D, Sofia H, Baker D, Flicek P, Shringarpure S, Bustamante C, Wang S, Jiang X, Ohno-Machado L, Tang H, Wang X, Hubaux J. Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks. Journal Of The American Medical Informatics Association 2017, 24: 799-805. PMID: 28339683, PMCID: PMC5881894, DOI: 10.1093/jamia/ocw167.Peer-Reviewed Original Research
2016
PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS
Chen F, Wang S, Jiang X, Ding S, Lu Y, Kim J, Sahinalp S, Shimizu C, Burns J, Wright V, Png E, Hibberd M, Lloyd D, Yang H, Telenti A, Bloss C, Fox D, Lauter K, Ohno-Machado L. PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS. Bioinformatics 2016, 33: 871-878. PMID: 28065902, PMCID: PMC5860394, DOI: 10.1093/bioinformatics/btw758.Peer-Reviewed Original ResearchConceptsSoftware Guard ExtensionsHomomorphic encryptionDistributed ComputationCollaboration frameworkTrustworthy computationCollaboration modelSupplementary dataNetwork collaborationEncryptionExperimental resultsHealth informationAlternative solutionComputationInternational collaboration frameworkHardwareAccurate analysisPerformanceBioinformaticsImplementationFrameworkDataExtensionInformationCollaborationProtecting genomic data analytics in the cloud: state of the art and opportunities
Tang H, Jiang X, Wang X, Wang S, Sofia H, Fox D, Lauter K, Malin B, Telenti A, Xiong L, Ohno-Machado L. Protecting genomic data analytics in the cloud: state of the art and opportunities. BMC Medical Genomics 2016, 9: 63. PMID: 27733153, PMCID: PMC5062944, DOI: 10.1186/s12920-016-0224-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHuman genomic dataSecure computation techniquesPublic cloud environmentSecure computation methodsGenomic data analyticsReal-world environmentsSecond Critical AssessmentSecure outsourcingCloud environmentCryptographic technologyPublic cloudSecure collaborationUnauthorized usersComputation tasksData privacyData analyticsBiomedical computingData scientistsComputational environmentGenomic dataWorld environmentComputation techniquesMultiple organizationsPractical algorithmPrivacyGenome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States
Wang S, Jiang X, Singh S, Marmor R, Bonomi L, Fox D, Dow M, Ohno‐Machado L. Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States. Annals Of The New York Academy Of Sciences 2016, 1387: 73-83. PMID: 27681358, PMCID: PMC5266631, DOI: 10.1111/nyas.13259.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsData privacySensitive individual informationComputer science communityReal-world problemsUnauthorized partiesHuman genomic dataPrivacy breachesData accessData sharingData accessibilityConfidentiality protectionGenomic dataSpectrum of techniquesIndividual informationPrivacyScience communityPhenotype informationTechnical approachPotential solutionsCurrent common practiceBiomedical researchResearch purposesConfidentialityInformationSharing
2014
miRIAD—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
DNA-COMPACT: DNA COMpression Based on a Pattern-Aware Contextual Modeling Technique
Li P, Wang S, Kim J, Xiong H, Ohno-Machado L, Jiang X. DNA-COMPACT: DNA COMpression Based on a Pattern-Aware Contextual Modeling Technique. PLOS ONE 2013, 8: e80377. PMID: 24282536, PMCID: PMC3840021, DOI: 10.1371/journal.pone.0080377.Peer-Reviewed Original ResearchConceptsReference-free compressionDisk storage capacityCompression algorithmDecompression costData transferringArt algorithmsCompression performanceFile sizeGenome compressionCompression rateBit rateAlgorithmDNA compressionBiomedical researchersPerformance advantagesGenome dataModeling techniquesContextual modelImportant concernResearch purposesCompressionPerformanceStorage capacityBitsReference sequence
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 interfaceNCBIMutationsExpressionDomainTargetInformatics research to enable clinically relevant, personalized genomic medicine
Ohno-Machado L. Informatics research to enable clinically relevant, personalized genomic medicine. Journal Of The American Medical Informatics Association 2012, 19: 149-150. PMID: 22319175, PMCID: PMC3277638, DOI: 10.1136/amiajnl-2012-000844.Commentaries, Editorials and Letters
2007
MODELING CANCER: INTEGRATION OF "OMICS" INFORMATION IN DYNAMIC SYSTEMS
STRANSKY B, BARRERA J, OHNO-MACHADO L, DE SOUZA S. MODELING CANCER: INTEGRATION OF "OMICS" INFORMATION IN DYNAMIC SYSTEMS. Journal Of Bioinformatics And Computational Biology 2007, 5: 977-986. PMID: 17787066, DOI: 10.1142/s0219720007002990.Peer-Reviewed Original Research