2024
Critical reasoning on the co-expression module QTL in the dorsolateral prefrontal cortex
Cote A, Young H, Huckins L. Critical reasoning on the co-expression module QTL in the dorsolateral prefrontal cortex. Human Genetics And Genomics Advances 2024, 5: 100311. PMID: 38773772, PMCID: PMC11214266, DOI: 10.1016/j.xhgg.2024.100311.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociGene co-expressionCo-expressionExpression quantitative trait locus methodGenetic variantsComplex trait heritabilityMultiple testing burdenGene-based testsQuantitative trait lociTrans-eQTLsCis-eQTLsRegulatory variationSequencing datasetsTrait lociGene regulationTrait heritabilityGene functionGene modulesReal-data applicationModule genesGenesTesting burdenDorsolateral prefrontal cortexVariantsComparison to prior studies
2023
STRESS IN A DISH: MODELING THE IMPACT OF COMMON GENETIC VARIATION ON STRESS RESPONSE IN HIPSC-DERIVED NEURONS IN PTSD
Seah C, Signer R, Young H, Kozik E, Rusielewicz T, Bader H, Xu C, de Pins A, Breen M, Paull D, Yehuda R, Girgenti M, Brennand K, Huckins L. STRESS IN A DISH: MODELING THE IMPACT OF COMMON GENETIC VARIATION ON STRESS RESPONSE IN HIPSC-DERIVED NEURONS IN PTSD. European Neuropsychopharmacology 2023, 75: s40. DOI: 10.1016/j.euroneuro.2023.08.081.Peer-Reviewed Original ResearchCommon genetic variationGenetic variationStress responseCell typesEQTL associationsTranscriptional stress responseGenomic risk lociTissue-specific mannerChIP-seq datasetsCell type deconvolutionCommon genetic variantsPost-mortem brainsGene expression signaturesHiPSC-derived neuronsTranscription factorsSuch lociCatalog genesRisk lociGenetic studiesExpression signaturesGenetic variantsRegulatory activityGenesEQTLsMechanistic understanding
2022
Chapter 14 Integration with systems biology approaches and -omics data to characterize risk variation
Young H, Cote A, Huckins L. Chapter 14 Integration with systems biology approaches and -omics data to characterize risk variation. 2022, 289-315. DOI: 10.1016/b978-0-12-819602-1.00017-6.Peer-Reviewed Original ResearchAssociation studiesPatterns of linkage disequilibriumTranscriptome-wide association studyGenome-wide association studiesFunctional genomic annotationsSystems biology approachGenome annotationNoncoding variantsNoncoding regionsLinkage disequilibriumGene regulationRegulatory regionsGene networksGenetic variantsBiology approachFunctional pathwaysRisk variationDevelopmental stagesGenetic riskGenesPathwayUnique considerationsVariantsVariation researchPsychiatric disorders
2019
Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes
Drange O, Smeland O, Shadrin A, Finseth P, Witoelar A, Frei O, Group P, Wang Y, Hassani S, Djurovic S, Dale A, Andreassen O, Stahl E, Breen G, Forstner A, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman J, Gaspar H, de Leeuw C, Steinberg S, Pavlides J, Trzaskowski M, Pers T, Holmans P, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als T, Anjorin A, Antilla V, Awasthi S, Badner J, Bækvad-Hansen M, Barchas J, Bass N, Bauer M, Belliveau R, Bergen S, Pedersen C, Bøen E, Boks M, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney A, Chen D, Churchhouse C, Clarke T, Coryell W, Craig D, Cruceanu C, Curtis D, Czerski P, Dale A, de Jong S, Degenhardt F, Del-Favero J, DePaulo J, Djurovic S, Dobbyn A, Dumont A, Elvsåshagen T, Escott-Price V, Fan C, Fischer S, Flickinger M, Foroud T, Forty L, Frank J, Fraser C, Freimer N, Friseìn L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen M, Goldstein J, Gordon S, Gordon-Smith K, Green E, Green M, Greenwood T, Grove J, Guan W, Parra J, Hamshere M, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson J, Jureìus A, Kandaswamy R, Karlsson R, Kennedy J, Kittel-Schneider S, Knott S, Knowles J, Kogevinas M, Koller A, Kupka R, Lavebratt C, Lawrence J, Lawson W, Leber M, Lee P, Levy S, Li J, Liu C, Lucae S, Maaser A, MacIntyre D, Mahon P, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis M, McKay J, Medeiros H, Medland S, Meng F, Milani L, Montgomery G, Morris D, Mühleisen T, Mullins N, Nguyen H, Nievergelt C, Adolfsson A, Nwulia E, O’Donovan C, Loohuis L, Ori A, Oruc L, Ösby U, Perlis R, Perry A, Pfennig A, Potash J, Purcell S, Regeer E, Reif A, Reinbold C, Rice J, Rivas F, Rivera M, Roussos P, Ruderfer D, Ryu E, Saìnchez-Mora C, Schatzberg A, Scheftner W, Schork N, Weickert C, Shehktman T, Shilling P, Sigurdsson E, Slaney C, Smeland O, Sobell J, Hansen C, Spijker A, St Clair D, Steffens M, Strauss J, Streit F, Strohmaier J, Szelinger S, Thompson R, Thorgeirsson T, Treutlein J, Vedder H, Wang W, Watson S, Weickert T, Witt S, Xi S, Xu W, Young A, Zandi P, Zhang P, Zollner S, Adolfsson R, Agartz I, Alda M, Backlund L, Baune B, Bellivier F, Berrettini W, Biernacka J, Blackwood D, Boehnke M, Børglum A, Corvin A, Craddock N, Daly M, Dannlowski U, Esko T, Etain B, Frye M, Fullerton J, Gershon E, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard D, Hultman C, Jones I, Jones L, Kahn R, Kirov G, Landeìn M, Leboyer M, Lewis C, Li Q, Lissowska J, Martin N, Mayoral F, McElroy S, McIntosh A, McMahon F, Melle I, Metspalu A, Mitchell P, Morken G, Mors O, Mortensen P, Müller-Myhsok B, Myers R, Neale B, Nimgaonkar V, Nordentoft M, Nöthen M, O’Donovan M, Oedegaard K, Owen M, Paciga S, Pato C, Pato M, Posthuma D, Ramos-Quiroga J, Ribaseìs M, Rietschel M, Rouleau G, Schalling M, Schofield P, Schulze T, Serretti A, Smoller J, Stefansson H, Stefansson K, Stordal E, Sullivan P, Turecki G, Vaaler A, Vieta E, Vincent J, Werge T, Nurnberger J, Wray N, Di Florio A, Edenberg H, Cichon S, Ophoff R, Scott L, Andreassen O, Kelsoe J, Sklar P. Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes. Frontiers In Neuroscience 2019, 13: 220. PMID: 30930738, PMCID: PMC6425305, DOI: 10.3389/fnins.2019.00220.Peer-Reviewed Original ResearchCommon genetic variantsNovel lociGenetic variantsGenetic overlapPolygenic overlapGenome-wide associationNovel genomic lociNumerous common genetic variantsGenomic lociComplex traitsWide associationGenesLociInternational GenomicsGenetic originTraitsAlzheimer's diseaseImplicatingVariantsGenomicsOverlapBipolar disorderDistinct featuresFurther studies
2018
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Barbeira A, Dickinson S, Bonazzola R, Zheng J, Wheeler H, Torres J, Torstenson E, Shah K, Garcia T, Edwards T, Stahl E, Huckins L, GTEx Consortium, Nicolae D, Cox N, Im H. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics. Nature Communications 2018, 9: 1825. PMID: 29739930, PMCID: PMC5940825, DOI: 10.1038/s41467-018-03621-1.Peer-Reviewed Original ResearchConceptsGene expression variationExpression variationMonogenic disease genesGWAS summary statisticsSpectrum of milder phenotypesGTEx tissuesS-PrediXcanDisease genesTrait etiologyPhenotypic consequencesGenetic variantsHuman phenotypesRegulatory mechanismsMilder phenotypeSummary statisticsSignificant associationPhenotypeGenesTraitsMeta-analysis studySummary dataReference setsPrediXcanIndependent cohortGWAS