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
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
2017
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders
Nguyen H, Bryois J, Kim A, Dobbyn A, Huckins L, Munoz-Manchado A, Ruderfer D, Genovese G, Fromer M, Xu X, Pinto D, Linnarsson S, Verhage M, Smit A, Hjerling-Leffler J, Buxbaum J, Hultman C, Sklar P, Purcell S, Lage K, He X, Sullivan P, Stahl E. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. Genome Medicine 2017, 9: 114. PMID: 29262854, PMCID: PMC5738153, DOI: 10.1186/s13073-017-0497-y.Peer-Reviewed Original ResearchConceptsProtein-protein interactionsDD risk genesRisk genesRisk-geneGene set enrichment resultsProtein-protein interaction subnetworksStudy of rare variationWhole-exome sequencing dataNeurodevelopmental disorder genesPost-transcriptional gene regulationExome sequencing dataSets of genesRare exonic variantsGene set enrichmentRare variationNeurodevelopmental disordersAutism spectrum disorderGene subnetworksGenetic architectureSequence dataRNA-seqTrio familiesGene regulationExonic variantsPathway enrichment