2023
Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings
Hicks E, Seah C, Cote A, Marchese S, Brennand K, Nestler E, Girgenti M, Huckins L. Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings. Translational Psychiatry 2023, 13: 129. PMID: 37076454, PMCID: PMC10115809, DOI: 10.1038/s41398-023-02412-7.Peer-Reviewed Original ResearchMeSH KeywordsBrainComputational BiologyDepressive Disorder, MajorGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansTranscriptomeConceptsBioinformatics approachTranscriptomic dataBrain transcriptomeGenome-wide analysisDynamic transcriptional landscapeBrain gene expression dataGene expression dataTranscriptional landscapeTranscriptomic studiesIntegrating GeneticExpression dataPhenotypic signaturesGenomic driversTranscriptomeMajor depressive disorderValuable resourceRecent findingsEnvironmental influencesTranscriptomicsDepressive disorderGeneticsMultiple approachesPathophysiology of depressionSignaturesDysregulation
2020
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 ResearchMeSH KeywordsComputational BiologyDiseaseElectronic Health RecordsGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotidePrejudiceConceptsElectronic 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 mannerRecordsCohortBias