2023
Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program
Wang X, Ryu J, Kim J, Ramirez A, Mayo K, Condon H, Vaitinadin N, Ohno-Machado L, Talavera G, Ellinor P, Lubitz S, Choi S. Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program. Journal Of Human Genetics 2023, 68: 565-570. PMID: 37072623, PMCID: PMC10524735, DOI: 10.1038/s10038-023-01147-z.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsCoronary Artery DiseaseDiabetes Mellitus, Type 2Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansPopulation HealthProprotein Convertase 9ConceptsDiverse human populationsGenomic dataGene-based burden testsWhole genome sequencesRare variant analysisHuman populationQuantitative traitsBurden testsRare lossLociComplex diseasesGenetic associationVariant analysisFunction variantsCardiometabolic traitsRare variantsTraitsBiomedical researchGIGYF1VariantsNPR2ACANSequencePopulationLDLR
2021
Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation
Kim M, Harmanci A, Bossuat J, Carpov S, Cheon J, Chillotti I, Cho W, Froelicher D, Gama N, Georgieva M, Hong S, Hubaux J, Kim D, Lauter K, Ma Y, Ohno-Machado L, Sofia H, Son Y, Song Y, Troncoso-Pastoriza J, Jiang X. Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation. Cell Systems 2021, 12: 1108-1120.e4. PMID: 34464590, PMCID: PMC9898842, DOI: 10.1016/j.cels.2021.07.010.Peer-Reviewed Original ResearchConceptsHomomorphic encryption techniqueResource-intensive computationsSecure outsourcingGenomic data analysisData securityEncryption modelEncryption techniquePrivacy concernsSource codeMemory requirementsGenetic data analysisData analysisComparable accuracyFundamental stepGenotype imputationImputationDownloadSecurityOutsourcingComputationCodeServicesRequirementsAccuracyMethod
2020
iDASH secure genome analysis competition 2018: blockchain genomic data access logging, homomorphic encryption on GWAS, and DNA segment searching
Kuo T, Jiang X, Tang H, Wang X, Bath T, Bu D, Wang L, Harmanci A, Zhang S, Zhi D, Sofia H, Ohno-Machado L. iDASH secure genome analysis competition 2018: blockchain genomic data access logging, homomorphic encryption on GWAS, and DNA segment searching. BMC Medical Genomics 2020, 13: 98. PMID: 32693816, PMCID: PMC7372776, DOI: 10.1186/s12920-020-0715-0.Peer-Reviewed Original ResearchMeSH KeywordsBlockchainDatasets as TopicDNAGenome, HumanGenome-Wide Association StudyHumansModels, Theoretical
2017
Mechanisms to protect the privacy of families when using the transmission disequilibrium test in genome-wide association studies
Wang M, Ji Z, Wang S, Kim J, Yang H, Jiang X, Ohno-Machado L. Mechanisms to protect the privacy of families when using the transmission disequilibrium test in genome-wide association studies. Bioinformatics 2017, 33: 3716-3725. PMID: 29036461, PMCID: PMC5860319, DOI: 10.1093/bioinformatics/btx470.Peer-Reviewed Original ResearchChildFamilyGenetic PrivacyGenome-Wide Association StudyHumansLinkage DisequilibriumParentsPolymorphism, Single NucleotideSoftwareWhole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Kim J, Shimizu C, Kingsmore S, Veeraraghavan N, Levy E, dos Santos A, Yang H, Flatley J, Hoang L, Hibberd M, Tremoulet A, Harismendy O, Ohno-Machado L, Burns J. Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. PLOS ONE 2017, 12: e0170977. PMID: 28151979, PMCID: PMC5289527, DOI: 10.1371/journal.pone.0170977.Peer-Reviewed Original ResearchConceptsWhole genome sequencesGenome-wide association studiesToll-like receptor 6Single nucleotide variantsCommon disease-rare variant hypothesisExpression quantitative trait loci (eQTL) analysisDifferential expressionQuantitative trait locus (QTL) analysisCommon disease–common variantPathogen-associated molecular pattern recognitionIntegrative genomics approachIntronic single nucleotide variantsComplex genetic diseasesSequence quality scoresMolecular pattern recognitionWhole-genome sequencingGenomic approachesTranscriptome dataGenome sequenceSequence variationLocus analysisGenome sequencingAssociation studiesFunction of genotypeNucleotide variants
2016
Protecting 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 algorithmPrivacy
2014
A community assessment of privacy preserving techniques for human genomes
Jiang X, Zhao Y, Wang X, Malin B, Wang S, Ohno-Machado L, Tang H. A community assessment of privacy preserving techniques for human genomes. BMC Medical Informatics And Decision Making 2014, 14: s1. PMID: 25521230, PMCID: PMC4290799, DOI: 10.1186/1472-6947-14-s1-s1.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsBiomedical dataPrivacy preserving techniquesPrivacy protection techniquesData privacyBiomedical computingHuman genomic dataData donorsDissemination techniquesPersonal Genome ProjectRaw dataProtection techniquesRigorous protectionPrivacyGenomic dataFinal resultsComputingCommunity effortsAnalysis outcomesChallengesTechniqueDataProjectChoosing blindly but wisely: differentially private solicitation of DNA datasets for disease marker discovery
Zhao Y, Wang X, Jiang X, Ohno-Machado L, Tang H. Choosing blindly but wisely: differentially private solicitation of DNA datasets for disease marker discovery. Journal Of The American Medical Informatics Association 2014, 22: 100-108. PMID: 25352565, PMCID: PMC4433380, DOI: 10.1136/amiajnl-2014-003043.Peer-Reviewed Original ResearchMeSH KeywordsConfidentialityDatasets as TopicDNAGenetic MarkersGenome, HumanGenome-Wide Association StudyHumansPolymorphism, Single NucleotideConceptsData ownersData usersHuman genomic datasetsHuman genomic dataPatient privacyPrivacyGeneration approachUsersData selectionReal dataDatasetGenomic datasetsPrivate solicitationDNA datasetsScientific discoveryNew approachGenomic dataHigh confidencePilot versionEvaluation methodRight choiceOwnersAlgorithmNew techniqueDisease marker discoveryPhenDisco: 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 InformationQueriesMetadataEntrezResourcesSystem