2023
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
Sullivan P, Meadows J, Gazal S, Phan B, Li X, Genereux D, Dong M, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas M, Marinescu V, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins L, Lawler A, Keough K, Zheng Z, Zeng J, Wray N, Li Y, Johnson J, Chen J, Paten B, Reilly S, Hughes G, Weng Z, Pollard K, Pfenning A, Forsberg-Nilsson K, Karlsson E, Lindblad-Toh K, Andrews G, Armstrong J, Bianchi M, Birren B, Bredemeyer K, Breit A, Christmas M, Clawson H, Damas J, Di Palma F, Diekhans M, Dong M, Eizirik E, Fan K, Fanter C, Foley N, Forsberg-Nilsson K, Garcia C, Gatesy J, Gazal S, Genereux D, Goodman L, Grimshaw J, Halsey M, Harris A, Hickey G, Hiller M, Hindle A, Hubley R, Hughes G, Johnson J, Juan D, Kaplow I, Karlsson E, Keough K, Kirilenko B, Koepfli K, Korstian J, Kowalczyk A, Kozyrev S, Lawler A, Lawless C, Lehmann T, Levesque D, Lewin H, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu V, Marques-Bonet T, Mason V, Meadows J, Meyer W, Moore J, Moreira L, Moreno-Santillan D, Morrill K, Muntané G, Murphy W, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat N, Pfenning A, Phan B, Pollard K, Pratt H, Ray D, Reilly S, Rosen J, Ruf I, Ryan L, Ryder O, Sabeti P, Schäffer D, Serres A, Shapiro B, Smit A, Springer M, Srinivasan C, Steiner C, Storer J, Sullivan K, Sullivan P, Sundström E, Supple M, Swofford R, Talbot J, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder A, Wirthlin M, Xue J, Zhang X. Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science 2023, 380: eabn2937. PMID: 37104612, PMCID: PMC10259825, DOI: 10.1126/science.abn2937.Peer-Reviewed Original ResearchConceptsHuman genomeHuman diseasesCopy-number variationsHeritable human diseasesGenome annotationVariant annotationGenomic positionsGenomic regionsDisease heritabilityFunctional annotationEvolutionary constraintsAssociation studiesCopy-numberGenetic variationGenetic findingsGenomeCell typesRegulatory landscapeDisease mechanismsAnnotationBiological mechanismsCancer dataMammalsPredictor of functionHeritability
2018
Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS
Dobbyn A, Huckins L, Boocock J, Sloofman L, Glicksberg B, Giambartolomei C, Hoffman G, Perumal T, Girdhar K, Jiang Y, Raj T, Ruderfer D, Kramer R, Pinto D, Akbarian S, Roussos P, Domenici E, Devlin B, Sklar P, Stahl E, Sieberts S, Sklar P, Buxbaum J, Devlin B, Lewis D, Gur R, Hahn C, Hirai K, Toyoshiba H, Domenici E, Essioux L, Mangravite L, Peters M, Lehner T, Lipska B, Cicek A, Lu C, Roeder K, Xie L, Talbot K, Hemby S, Essioux L, Browne A, Chess A, Topol A, Charney A, Dobbyn A, Readhead B, Zhang B, Pinto D, Bennett D, Kavanagh D, Ruderfer D, Stahl E, Schadt E, Hoffman G, Shah H, Zhu J, Johnson J, Fullard J, Dudley J, Girdhar K, Brennand K, Sloofman L, Huckins L, Fromer M, Mahajan M, Roussos P, Akbarian S, Purcell S, Hamamsy T, Raj T, Haroutunian V, Wang Y, Gümüş Z, Senthil G, Kramer R, Logsdon B, Derry J, Dang K, Sieberts S, Perumal T, Visintainer R, Shinobu L, Sullivan P, Klei L. Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. American Journal Of Human Genetics 2018, 102: 1169-1184. PMID: 29805045, PMCID: PMC5993513, DOI: 10.1016/j.ajhg.2018.04.011.Peer-Reviewed Original ResearchConceptsExpression quantitative trait lociConditional expression quantitative trait lociCommonMind ConsortiumEQTL signalsGenome-wide association study (GWAS) lociSchizophrenia GWASContext-specific regulationQuantitative trait lociCo-localization analysisGene expression levelsGWAS associationsNovel genesTrait lociStudy lociCausal genesEQTL dataFine mappingGenomic featuresGWAS statisticsGene expressionGenesGWASLociExpression levelsHuman brain samples