Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data
Dueñas H, Seah C, Johnson J, Huckins L. Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data. Human Molecular Genetics 2020, 29: r33-r41. PMID: 32879975, PMCID: PMC7530523, DOI: 10.1093/hmg/ddaa192.Peer-Reviewed Original ResearchConceptsElectronic health recordsUse of electronic health recordsElectronic health record dataElectronic health record analysisGenome-wide association studiesHealth recordsPhenotype definitionAssociation studiesMedical recordsClinical decisionsPhenotypic characterizationPhenotypic analysisClinically useful insightsPotential biasPresentation of diseaseDegree of biasHomogeneous cohortClinicPhenotypeScalable mannerRecordsCohortBiasAnalysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts
Huckins L, Chatzinakos C, Breen M, Hartmann J, Klengel T, da Silva Almeida A, Dobbyn A, Girdhar K, Hoffman G, Klengel C, Logue M, Lori A, Maihofer A, Morrison F, Nguyen H, Park Y, Ruderfer D, Sloofman L, van Rooij S, Consortium P, Baker D, Chen C, Cox N, Duncan L, Geyer M, Glatt S, Im H, Risbrough V, Smoller J, Stein D, Yehuda R, Liberzon I, Koenen K, Jovanovic T, Kellis M, Miller M, Bacanu S, Nievergelt C, Buxbaum J, Sklar P, Ressler K, Stahl E, Daskalakis N. Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts. Cell Reports 2020, 31: 107716. PMID: 32492425, PMCID: PMC7359754, DOI: 10.1016/j.celrep.2020.107716.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCase-Control StudiesCohort StudiesDexamethasoneDown-RegulationGene Expression RegulationGene Regulatory NetworksGenetic Predisposition to DiseaseHumansLeukocytesMaleMiceMice, Inbred C57BLMilitary PersonnelPrefrontal CortexRepressor ProteinsRibonucleoproteins, Small NuclearRNA InterferenceRNA, Small InterferingStress Disorders, Post-TraumaticConceptsPost-traumatic stress disorderGenetically regulated gene expressionPost-traumatic stress disorder casesDorsolateral prefrontal cortexGene expressionU12 intron splicingPrefrontal cortexStress disorderDeployment stressTranscriptome imputationTissue-specific gene expressionDifferential gene expressionMilitary cohortZNF140U12 intronsGenetic heterogeneityExpression changesFunctional roleExogenous glucocorticoidsPeripheral leukocytesEuropean cohortCortexCohortDisordersExpression