2024
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Wen C, Margolis M, Dai R, Zhang P, Przytycki P, Vo D, Bhattacharya A, Matoba N, Tang M, Jiao C, Kim M, Tsai E, Hoh C, Aygün N, Walker R, Chatzinakos C, Clarke D, Pratt H, Peters M, Gerstein M, Daskalakis N, Weng Z, Jaffe A, Kleinman J, Hyde T, Weinberger D, Bray N, Sestan N, Geschwind D, Roeder K, Gusev A, Pasaniuc B, Stein J, Love M, Pollard K, Liu C, Gandal M, Akbarian S, Abyzov A, Ahituv N, Arasappan D, Almagro Armenteros J, Beliveau B, Bendl J, Berretta S, Bharadwaj R, Bicks L, Brennand K, Capauto D, Champagne F, Chatterjee T, Chatzinakos C, Chen Y, Chen H, Cheng Y, Cheng L, Chess A, Chien J, Chu Z, Clement A, Collado-Torres L, Cooper G, Crawford G, Davila-Velderrain J, Deep-Soboslay A, Deng C, DiPietro C, Dracheva S, Drusinsky S, Duan Z, Duong D, Dursun C, Eagles N, Edelstein J, Emani P, Fullard J, Galani K, Galeev T, Gaynor S, Girdhar K, Goes F, Greenleaf W, Grundman J, Guo H, Guo Q, Gupta C, Hadas Y, Hallmayer J, Han X, Haroutunian V, Hawken N, He C, Henry E, Hicks S, Ho M, Ho L, Hoffman G, Huang Y, Huuki-Myers L, Hwang A, Iatrou A, Inoue F, Jajoo A, Jensen M, Jiang L, Jin P, Jin T, Jops C, Jourdon A, Kawaguchi R, Kellis M, Kleopoulos S, Kozlenkov A, Kriegstein A, Kundaje A, Kundu S, Lee C, Lee D, Li J, Li M, Lin X, Liu S, Liu J, Liu J, Liu S, Lou S, Loupe J, Lu D, Ma S, Ma L, Mariani J, Martinowich K, Maynard K, Mazariegos S, Meng R, Myers R, Micallef C, Mikhailova T, Ming G, Mohammadi S, Monte E, Montgomery K, Moore J, Moran J, Mukamel E, Nairn A, Nemeroff C, Ni P, Norton S, Nowakowski T, Omberg L, Page S, Park S, Patowary A, Pattni R, Pertea G, Phalke N, Pinto D, Pjanic M, Pochareddy S, Pollen A, Purmann C, Qin Z, Qu P, Quintero D, Raj T, Rajagopalan A, Reach S, Reimonn T, Ressler K, Ross D, Roussos P, Rozowsky J, Ruth M, Ruzicka W, Sanders S, Schneider J, Scuderi S, Sebra R, Seyfried N, Shao Z, Shedd N, Shieh A, Shin J, Skarica M, Snijders C, Song H, State M, Steyert M, Subburaju S, Sudhof T, Snyder M, Tao R, Therrien K, Tsai L, Urban A, Vaccarino F, van Bakel H, Voloudakis G, Wamsley B, Wang T, Wang S, Wang D, Wang Y, Warrell J, Wei Y, Weimer A, Whalen S, White K, Willsey A, Won H, Wong W, Wu H, Wu F, Wuchty S, Wylie D, Xu S, Yap C, Zeng B, Zhang C, Zhang B, Zhang J, Zhang Y, Zhou X, Ziffra R, Zeier Z, Zintel T. Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain. Science 2024, 384: eadh0829. PMID: 38781368, DOI: 10.1126/science.adh0829.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide association study lociSplicing quantitative trait lociQuantitative trait lociSplicing regulationCross-ancestryTrait lociAssociation studiesRegulatory elementsCellular contextHuman brainTranscriptome regulationCoexpression networkRisk genesAutism spectrum disorderGenesCellular heterogeneityComprehensive landscapeSpectrum disorderIsoformsSplicingIncreased cellular heterogeneityLociNeuronal maturationRegulation
2023
Beyond genome-wide association studies: Investigating the role of noncoding regulatory elements in primary sclerosing cholangitis
Pratt H, Wu T, Elhajjajy S, Zhou J, Fitzgerald K, Fazzio T, Weng Z, Pratt D. Beyond genome-wide association studies: Investigating the role of noncoding regulatory elements in primary sclerosing cholangitis. Hepatology Communications 2023, 7: e0242. PMID: 37756045, PMCID: PMC10531193, DOI: 10.1097/hc9.0000000000000242.Peer-Reviewed Original ResearchMeSH KeywordsCholangitis, SclerosingChromatin Immunoprecipitation SequencingGenome-Wide Association StudyGenotypeHumansConceptsGenome-wide association studiesRegulatory element activityRegulatory elementsElement activityAssociation studiesCell type-specific regulatory elementsPrimary sclerosing cholangitisNoncoding regions of DNANoncoding risk variantsRegulatory element functionNoncoding regulatory elementsPrimary sclerosing cholangitis patientsRegions of DNANoncoding variantsATAC-seqRisk lociEpigenomic datasetsNoncoding regionsRNA-seqEpigenomic studiesRisk variantsSclerosing cholangitisT cellsT cell responses to antigen stimulationPeripheral CD4+ T cellsThe EN-TEx resource of multi-tissue personal epigenomes & variant-impact models
Rozowsky J, Gao J, Borsari B, Yang Y, Galeev T, Gürsoy G, Epstein C, Xiong K, Xu J, Li T, Liu J, Yu K, Berthel A, Chen Z, Navarro F, Sun M, Wright J, Chang J, Cameron C, Shoresh N, Gaskell E, Drenkow J, Adrian J, Aganezov S, Aguet F, Balderrama-Gutierrez G, Banskota S, Corona G, Chee S, Chhetri S, Cortez Martins G, Danyko C, Davis C, Farid D, Farrell N, Gabdank I, Gofin Y, Gorkin D, Gu M, Hecht V, Hitz B, Issner R, Jiang Y, Kirsche M, Kong X, Lam B, Li S, Li B, Li X, Lin K, Luo R, Mackiewicz M, Meng R, Moore J, Mudge J, Nelson N, Nusbaum C, Popov I, Pratt H, Qiu Y, Ramakrishnan S, Raymond J, Salichos L, Scavelli A, Schreiber J, Sedlazeck F, See L, Sherman R, Shi X, Shi M, Sloan C, Strattan J, Tan Z, Tanaka F, Vlasova A, Wang J, Werner J, Williams B, Xu M, Yan C, Yu L, Zaleski C, Zhang J, Ardlie K, Cherry J, Mendenhall E, Noble W, Weng Z, Levine M, Dobin A, Wold B, Mortazavi A, Ren B, Gillis J, Myers R, Snyder M, Choudhary J, Milosavljevic A, Schatz M, Bernstein B, Guigó R, Gingeras T, Gerstein M. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell 2023, 186: 1493-1511.e40. PMID: 37001506, PMCID: PMC10074325, DOI: 10.1016/j.cell.2023.02.018.Peer-Reviewed Original ResearchMeSH KeywordsEpigenomeGenome-Wide Association StudyGenomicsPhenotypePolymorphism, Single NucleotideQuantitative Trait Loci
2021
Integration of high-resolution promoter profiling assays reveals novel, cell type-specific transcription start sites across 115 human cell and tissue types
Moore J, Zhang X, Elhajjajy S, Fan K, Pratt H, Reese F, Mortazavi A, Weng Z. Integration of high-resolution promoter profiling assays reveals novel, cell type-specific transcription start sites across 115 human cell and tissue types. Genome Research 2021, 32: gr.275723.121. PMID: 34949670, PMCID: PMC8805725, DOI: 10.1101/gr.275723.121.Peer-Reviewed Original ResearchMeSH KeywordsGene Expression RegulationGenome-Wide Association StudyHumansPromoter Regions, GeneticTranscription Initiation SiteConceptsTranscription start site annotationTranscription start siteGenome-wide association studiesStart siteAccurate transcription start siteCell type-specific usageMapping of promotersPaired-end informationPaired-end readsAnalysis of gene expressionTranscriptomic data setsGENCODE genesRNA annotationGWAS genesPaired-endGenomic positionsGene collectionTissue typesAssociation studiesTranscriptional regulationTranscription assaysBiological communitiesGene expressionHuman diseasesHuman cells
2013
Genome-wide Analysis of Immune System Genes by Expressed Sequence Tag Profiling
Giallourakis C, Benita Y, Molinie B, Cao Z, Despo O, Pratt H, Zukerberg L, Daly M, Rioux J, Xavier R. Genome-wide Analysis of Immune System Genes by Expressed Sequence Tag Profiling. The Journal Of Immunology 2013, 190: 5578-5587. PMID: 23616578, PMCID: PMC3703829, DOI: 10.4049/jimmunol.1203471.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCluster AnalysisComputational BiologyDatabases, Nucleic AcidDNA-Binding ProteinsExpressed Sequence TagsGene Expression ProfilingGene Regulatory NetworksGenome-Wide Association StudyGenomicsHumansImmune SystemImmune System DiseasesLymphoma, B-CellMiceMolecular Sequence AnnotationReproducibility of ResultsRNA, Long NoncodingTranscription FactorsTranscriptomeConceptsExpressed sequence tagsExpressed sequence tag profilingEncyclopedia of DNA ElementsHuman expressed sequence tagsGenome-wide analysisIdentification of transcriptsMicroarray-based studiesImmune system genesRNA sequencing analysisStudies of mRNADNA elementsSequence tagsNovel genesMetabolic gene signatureNoncoding genesSequence analysisTranscriptome analysisImmune systemMicroarray studiesOverexpressed genesSystem genesGene expressionGenesFunctional studiesNoncoding RNAs