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Cell type-specific genetic regulation of gene expression across human tissues.
Kim-Hellmuth, Sarah; Aguet, François; Oliva, Meritxell; Muñoz-Aguirre, Manuel; Kasela, Silva; Wucher, Valentin; Castel, Stephane E; Hamel, Andrew R; Viñuela, Ana; Roberts, Amy L; Mangul, Serghei; Wen, Xiaoquan; Wang, Gao; Barbeira, Alvaro N; Garrido-Martín, Diego; Nadel, Brian B; Zou, Yuxin; Bonazzola, Rodrigo; Quan, Jie; Brown, Andrew; Martinez-Perez, Angel; Soria, José Manuel; Getz, Gad; Dermitzakis, Emmanouil T; Small, Kerrin S; Stephens, Matthew; Xi, Hualin S; Im, Hae Kyung; Guigó, Roderic; Segrè, Ayellet V; Stranger, Barbara E; Ardlie, Kristin G; Lappalainen, Tuuli.
Afiliación
  • Kim-Hellmuth S; Statistical Genetics, Max Planck Institute of Psychiatry, Munich, Germany. skimhellmuth@gmail.com tlappalainen@nygenome.org.
  • Aguet F; New York Genome Center, New York, NY, USA.
  • Oliva M; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Muñoz-Aguirre M; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kasela S; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.
  • Wucher V; Department of Public Health Sciences, University of Chicago, Chicago, IL, USA.
  • Castel SE; Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.
  • Hamel AR; Department of Statistics and Operations Research, Universitat Politècnica de Catalunya (UPC), Barcelona, Catalonia, Spain.
  • Viñuela A; New York Genome Center, New York, NY, USA.
  • Roberts AL; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Mangul S; Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.
  • Wen X; New York Genome Center, New York, NY, USA.
  • Wang G; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Barbeira AN; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Garrido-Martín D; Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
  • Nadel BB; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Zou Y; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Bonazzola R; Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland.
  • Quan J; Swiss Institute of Bioinformatics, Geneva, Switzerland.
  • Brown A; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Martinez-Perez A; Department of Computer Science, University of California, Los Angeles, Los Angeles, CA, USA.
  • Soria JM; Department of Clinical Pharmacy, School of Pharmacy, University of Southern California, Los Angeles, Los Angeles, CA, USA.
  • Getz G; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Dermitzakis ET; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.
  • Small KS; Centre for Genomic Regulation (CRG), The Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.
  • Stephens M; Department of Molecular, Cellular, and Developmental Biology, University of California, Los Angeles, Los Angeles, CA, USA.
  • Xi HS; Department of Statistics, University of Chicago, Chicago, IL, USA.
  • Im HK; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.
  • Guigó R; Inflammation & Immunology, Pfizer, Cambridge, MA, USA.
  • Segrè AV; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Stranger BE; Population Health and Genomics, University of Dundee, Dundee, Scotland, UK.
  • Ardlie KG; Unit of Genomic of Complex Diseases, Institut d'Investigació Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain.
  • Lappalainen T; Unit of Genomic of Complex Diseases, Institut d'Investigació Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain.
Science ; 369(6509)2020 09 11.
Article en En | MEDLINE | ID: mdl-32913075
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulación de la Expresión Génica / Sitios de Carácter Cuantitativo / Transcriptoma Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Science Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulación de la Expresión Génica / Sitios de Carácter Cuantitativo / Transcriptoma Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Science Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos