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

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The impact of rare variation on gene expression across tissues.

Autor: Li X; Department of Pathology, Stanford University, Stanford, California 94305, USA., Kim Y; Department of Computer Science, Johns Hopkins University, Baltimore 21218, Maryland, USA., Tsang EK; Department of Pathology, Stanford University, Stanford, California 94305, USA.; Biomedical Informatics Program, Stanford University, Stanford, California 94305, USA., Davis JR; Department of Pathology, Stanford University, Stanford, California 94305, USA.; Department of Genetics, Stanford University, Stanford, California 94305, USA., Damani FN; Department of Computer Science, Johns Hopkins University, Baltimore 21218, Maryland, USA., Chiang C; McDonnell Genome Institute, Washington University School of Medicine, St Louis, Missouri 63108, USA., Hess GT; Department of Genetics, Stanford University, Stanford, California 94305, USA., Zappala Z; Department of Pathology, Stanford University, Stanford, California 94305, USA.; Department of Genetics, Stanford University, Stanford, California 94305, USA., Strober BJ; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland 21218, USA., Scott AJ; McDonnell Genome Institute, Washington University School of Medicine, St Louis, Missouri 63108, USA., Li A; Department of Genetics, Stanford University, Stanford, California 94305, USA., Ganna A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Bassik MC; Department of Genetics, Stanford University, Stanford, California 94305, USA., Merker JD; Department of Pathology, Stanford University, Stanford, California 94305, USA., Hall IM; McDonnell Genome Institute, Washington University School of Medicine, St Louis, Missouri 63108, USA.; Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA.; Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA., Battle A; Department of Computer Science, Johns Hopkins University, Baltimore 21218, Maryland, USA., Montgomery SB; Department of Pathology, Stanford University, Stanford, California 94305, USA.; Department of Genetics, Stanford University, Stanford, California 94305, USA.

Publikováno v: Nature [Nature] 2017 Oct 11; Vol. 550 (7675), pp. 239-243.