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
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