2024
Evaluation of imputation performance of multiple reference panels in a Pakistani population
Xu J, Liu D, Hassan A, Genovese G, Cote A, Fennessy B, Cheng E, Charney A, Knowles J, Ayub M, Peterson R, Bigdeli T, Huckins L. Evaluation of imputation performance of multiple reference panels in a Pakistani population. Human Genetics And Genomics Advances 2024, 6: 100395. PMID: 39696820, PMCID: PMC11759560, DOI: 10.1016/j.xhgg.2024.100395.Peer-Reviewed Original ResearchGenome-wide association studiesReference panelImputation accuracyMultiple reference panelsPakistani individualsGenotype imputationAssociation studiesGenotype dataAncestry compositionEuropean individualsSample sizeTOPMedDiverse populationsPakistani populationImputationGenomeAncestryIndividualsGenotypesPopulationVariantsFuture panels
2022
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits
Highland H, Wojcik G, Graff M, Nishimura K, Hodonsky C, Baldassari A, Cote A, Cheng I, Gignoux C, Tao R, Li Y, Boerwinkle E, Fornage M, Haessler J, Hindorff L, Hu Y, Justice A, Lin B, Lin D, Stram D, Haiman C, Kooperberg C, Le Marchand L, Matise T, Kenny E, Carlson C, Stahl E, Avery C, North K, Ambite J, Buyske S, Loos R, Peters U, Young K, Bien S, Huckins L. Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits. American Journal Of Human Genetics 2022, 109: 669-679. PMID: 35263625, PMCID: PMC9069067, DOI: 10.1016/j.ajhg.2022.02.013.Peer-Reviewed Original ResearchConceptsAncestrally diverse populationsBody mass indexCardiometabolic traitsEuropean ancestryGene expressionTranscriptomic imputation modelsNon-EA populationsDiverse populationsWhite British participantsReference panelGenetically regulated gene expressionGene-trait associationsTissue-specific gene expressionPopulation ArchitectureUK BiobankMeasurement of gene expressionPredicting gene expressionMulti-omics datasetsRelevant tissuesSusceptibility lociMass indexComplex traitsIdentified genesNovel associationsDiverse sample
2019
SU11 GENETICALLY PREDICTED GENE EXPRESSION IN THE BRAIN AND PERIPHERAL TISSUES ASSOCIATES WITH PTSD
Huckins L, Girdhar K, Dobbyn A, Jovanovic T, Nievergelt C, Hoffman G, Maihofer A, Stein M, Sklar P, Ressler K, Buxbaum J, Stahl E, Daskalakis N, Consortium T, Group P. SU11 GENETICALLY PREDICTED GENE EXPRESSION IN THE BRAIN AND PERIPHERAL TISSUES ASSOCIATES WITH PTSD. European Neuropsychopharmacology 2019, 29: s892-s893. DOI: 10.1016/j.euroneuro.2017.08.200.Peer-Reviewed Original ResearchPost-traumatic stress disorderPsychiatric disordersBrain regionsPost-traumatic stress disorder patientsPost-traumatic stress disorder developmentGenotype-Tissue ExpressionCommonMind ConsortiumIndividuals exposed to traumaDebilitating psychiatric disorderPeripheral tissuesGene expression prediction modelsGene expressionGene-tissue associationsPGC-PTSDStress disorderPTSD riskExpression prediction modelsTrauma typesMulti-system dysregulationImmune dysregulationGenotype dataDisordersGene associationsReference panelGenetic heterogeneity63 TRANSCRIPTOMIC IMPUTATION ANALYSIS IN ANOREXIA NERVOSA IDENTIFIES BOTH METABOLIC AND PSYCHIATRIC AETIOLOGIES
Huckins L, Dobbyn A, Thornton L, Group of the PGC E, Devlin B, Sieberts S, Cox N, Im H, Breen G, Sklar P, Bulik C, Stahl E. 63 TRANSCRIPTOMIC IMPUTATION ANALYSIS IN ANOREXIA NERVOSA IDENTIFIES BOTH METABOLIC AND PSYCHIATRIC AETIOLOGIES. European Neuropsychopharmacology 2019, 29: s818. DOI: 10.1016/j.euroneuro.2017.08.064.Peer-Reviewed Original ResearchGene-tissue associationsTranscriptome imputationCommonMind ConsortiumGene expression prediction modelsGenome-wide significant lociTissue-specific gene expressionExpression prediction modelsMetabolic tissuesCaudate basal gangliaSignificant lociGenotype dataCharacterization of AnGene associationsReference panelGene expressionAetiology of ANMetabolic phenotypeMolecular pathwaysGenetic correlationsAssociation TestPsychiatric disordersAN riskMetabolic systemsImputation analysisBackground Anorexia nervosa
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