2025
scMODAL: a general deep learning framework for comprehensive single-cell multi-omics data alignment with feature links
Wang G, Zhao J, Lin Y, Liu T, Zhao Y, Zhao H. scMODAL: a general deep learning framework for comprehensive single-cell multi-omics data alignment with feature links. Nature Communications 2025, 16: 4994. PMID: 40442129, PMCID: PMC12122792, DOI: 10.1038/s41467-025-60333-z.Peer-Reviewed Original ResearchConceptsDeep learning frameworkSingle-cell multi-omics researchSingle-cell multi-omics dataLearning frameworkMulti-omics dataGenerative adversarial networkSingle-cell technologiesData alignmentSingle-cell resolutionMulti-omics researchDownstream analysisCellular statesOmics datasetsAdversarial networkNeural networkProteomic profilingCorrelated featuresBiological informationOmics perspectiveDiverse datasetsFeature topologyDisease mechanismsCell embeddingData resourcesRelationship inference
2024
ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures
Yang Y, Kumar H, Xie Y, Li Z, Li R, Chen W, Diala C, Ali M, Xu Y, Wu A, Hosseini S, Bi E, Zhao H, Kim P, Zheng W. ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures. Nucleic Acids Research 2024, 53: d331-d339. PMID: 39530217, PMCID: PMC11701669, DOI: 10.1093/nar/gkae1018.Peer-Reviewed Original ResearchConceptsHuman protein isoformsAlternative splicingProtein isoformsGeneration of multiple protein isoformsImpact of alternative splicingMultiple protein isoformsProtein-protein interactionsFunctional annotationCanonical isoformSplicing eventsSequence variationIntegrated knowledgebaseCellular processesProtein structureSplicingStructural biologyHuman diseasesDiverse functionsIsoformsDisease mechanismsStructural alterationsEukaryotesComprehensive databaseProteinSequence
2023
eQTL studies: from bulk tissues to single cells
Zhang J, Zhao H. eQTL studies: from bulk tissues to single cells. Journal Of Genetics And Genomics 2023, 50: 925-933. PMID: 37207929, PMCID: PMC10656365, DOI: 10.1016/j.jgg.2023.05.003.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociBulk tissueIdentification of eQTLContext-dependent gene regulationCell typesQuantitative trait lociMost eQTL studiesSingle cellsComplex traitsGene regulationEQTL studiesFunctional genesTrait lociSpecific genesChromosomal regionsDynamic regulationGene expressionBiological processesDifferent tissuesGenetic variantsExpression levelsDisease mechanismsGenesRegulationRecent studies
2022
Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation
Song S, Jiang W, Zhang Y, Hou L, Zhao H. Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation. American Journal Of Human Genetics 2022, 109: 802-811. PMID: 35421325, PMCID: PMC9118121, DOI: 10.1016/j.ajhg.2022.03.013.Peer-Reviewed Original ResearchConceptsLinkage disequilibrium score regressionComplex traitsSingle nucleotide polymorphismsSNP heritabilityGenome-wide association studiesDisequilibrium score regressionHigh-throughput technologiesHeritable phenotypesAssociation studiesGenetic studiesCryptic relatednessLD informationScore regressionHeritabilityGenetic contributionHeritability estimationPopulation stratificationDisease mechanismsTraitsLD matrixOnly summary statisticsUK BiobankPolygenicitySummary statisticsRelatedness
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