Genetic effects on gene expression across human tissues

Autor: GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Lead analysts, Laboratory, Data Analysis &Coordinating Center (LDACC), NIH program management, Biospecimen collection, Pathology, eQTL manuscript working group, Battle, Alexis, Brown, Christopher D, Engelhardt, Barbara E, Montgomery, Stephen B

Publikováno v: Nature, vol 550, iss 7675

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project ai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a32888571103653ffb9f933e5a25b832
https://escholarship.org/uc/item/24r749n7

The impact of rare variation on gene expression across tissues

Autor: Li, Xin, Kim, Yungil, Tsang, Emily K, Davis, Joe R, Damani, Farhan N, Chiang, Colby, Hess, Gaelen T, Zappala, Zachary, Strober, Benjamin J, Scott, Alexandra J, Li, Amy, Ganna, Andrea, Bassik, Michael C, Merker, Jason D, GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, Hall, Ira M, Battle, Alexis, Montgomery, Stephen B

Publikováno v: Nature, vol 550, iss 7675

Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not pract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::1bf49e01e92b38495418fe06bd9eb268
https://escholarship.org/uc/item/8n25b8s7

The role of polygenic risk scores in breast cancer risk perception and decision-making.

Autor: Riddle, Leslie, Joseph, Galen, Caruncho, Mikaella, Koenig, Barbara Ann, James, Jennifer Elyse

Publikováno v: Journal of Community Genetics; Oct2023, Vol. 14 Issue 5, p489-501, 13p

Landscape of X chromosome inactivation across human tissues.

Autor: Tukiainen T; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Villani AC; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA., Yen A; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA., Rivas MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Department of Biomedical Data Science, Stanford University, Stanford, California 94305, USA., Marshall JL; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Satija R; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; New York Genome Center, New York, New York 10013, USA.; Center for Genomics and Systems Biology, Department of Biology, New York University, New York, New York 10003, USA., Aguirre M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Gauthier L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Fleharty M; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Kirby A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Cummings BB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Castel SE; New York Genome Center, New York, New York 10013, USA.; Department of Systems Biology, Columbia University, New York, New York 10032, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Aguet F; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Byrnes A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Lappalainen T; New York Genome Center, New York, New York 10013, USA.; Department of Systems Biology, Columbia University, New York, New York 10032, USA., Regev A; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA., Ardlie KG; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Hacohen N; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

Publikováno v: Nature [Nature] 2017 Oct 11; Vol. 550 (7675), pp. 244-248.

Dynamic landscape and regulation of RNA editing in mammals.

Autor: Tan MH; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.; School of Chemical and Biomedical Engineering, Nanyang Technological University, Singapore 637459, Singapore.; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore 138672, Singapore., Li Q; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Shanmugam R; School of Chemical and Biomedical Engineering, Nanyang Technological University, Singapore 637459, Singapore.; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore 138672, Singapore., Piskol R; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Kohler J; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Young AN; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Liu KI; Genome Institute of Singapore, Agency for Science Technology and Research, Singapore 138672, Singapore., Zhang R; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Ramaswami G; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Ariyoshi K; The Wistar Institute, Philadelphia, Pennsylvania 19104, USA., Gupte A; St Vincent's Institute of Medical Research, Fitzroy, Victoria 3065, Australia., Keegan LP; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Central European Institute of Technology, Masaryk University, Kamenice, Brno 625 00, Czech Republic., George CX; Department of Molecular, Cellular and Developmental Biology, University of California-Santa Barbara, Santa Barbara, California 93106, USA., Ramu A; Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Department of Pathology &Immunology, Washington University School of Medicine, St Louis, Missouri 63108, USA., Huang N; Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Department of Pathology &Immunology, Washington University School of Medicine, St Louis, Missouri 63108, USA., Pollina EA; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Leeman DS; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Rustighi A; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy and National Laboratory CIB (LNCIB), Area Science Park, 34149 Trieste, Italy., Goh YPS; Cardiovascular Research Institute, University of California-San Francisco, San Francisco, California 94158, USA., Chawla A; Cardiovascular Research Institute, University of California-San Francisco, San Francisco, California 94158, USA., Del Sal G; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy and National Laboratory CIB (LNCIB), Area Science Park, 34149 Trieste, Italy., Peltz G; Department of Anesthesia, Stanford University School of Medicine, Stanford, California 94305, USA., Brunet A; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA., Conrad DF; Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Department of Pathology &Immunology, Washington University School of Medicine, St Louis, Missouri 63108, USA., Samuel CE; Department of Molecular, Cellular and Developmental Biology, University of California-Santa Barbara, Santa Barbara, California 93106, USA., O'Connell MA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Central European Institute of Technology, Masaryk University, Kamenice, Brno 625 00, Czech Republic., Walkley CR; St Vincent's Institute of Medical Research, Fitzroy, Victoria 3065, Australia.; Department of Medicine, St. Vincent's Hospital, University of Melbourne, Fitzroy, Victoria 3065, Australia., Nishikura K; The Wistar Institute, Philadelphia, Pennsylvania 19104, USA., Li JB; Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.

Publikováno v: Nature [Nature] 2017 Oct 11; Vol. 550 (7675), pp. 249-254.