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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas, Manuel A; Pirinen, Matti; Conrad, Donald F; Lek, Monkol; Tsang, Emily K; Karczewski, Konrad J; Maller, Julian B; Kukurba, Kimberly R; DeLuca, David S; Fromer, Menachem; Ferreira, Pedro G; Smith, Kevin S; Zhang, Rui; Zhao, Fengmei; Banks, Eric; Poplin, Ryan; Ruderfer, Douglas M; Purcell, Shaun M; Tukiainen, Taru; Minikel, Eric V; Stenson, Peter D; Cooper, David N; Huang, Katharine H; Sullivan, Timothy J; Nedzel, Jared; Bustamante, Carlos D; Li, Jin Billy; Daly, Mark J; Guigo, Roderic; Donnelly, Peter; Ardlie, Kristin; Sammeth, Michael; Dermitzakis, Emmanouil T; McCarthy, Mark I; Montgomery, Stephen B; Lappalainen, Tuuli; MacArthur, Daniel G.
Affiliation
  • Rivas MA; Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK. rivas@well.ox.ac.uk tlappalainen@nygenome.org macarthur@atgu.mgh.harvard.edu.
  • Pirinen M; FInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Conrad DF; Washington University in St. Louis, St. Louis, MO, USA.
  • Lek M; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Tsang EK; Department of Genetics, Stanford University, Stanford, CA, USA. Department of Pathology, Stanford University, Stanford, CA, USA. Biomedical Informatics Program, Stanford University, Stanford, CA, USA.
  • Karczewski KJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Maller JB; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Kukurba KR; Department of Genetics, Stanford University, Stanford, CA, USA. Department of Pathology, Stanford University, Stanford, CA, USA.
  • DeLuca DS; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Fromer M; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. Department of Psychiatry, Mt. Sinai Hospital, NY, USA.
  • Ferreira PG; Department of Genetic Medicine and Development,University of Geneva, Geneva, Switzerland. Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland. Swiss Institute of Bioinformatics, Geneva, Switzerland.
  • Smith KS; Department of Genetics, Stanford University, Stanford, CA, USA. Department of Pathology, Stanford University, Stanford, CA, USA.
  • Zhang R; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Zhao F; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Banks E; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Poplin R; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Ruderfer DM; Department of Psychiatry, Mt. Sinai Hospital, NY, USA. Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, NY, USA.
  • Purcell SM; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. Department of Psychiatry, Mt. Sinai Hospital, NY, USA. Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Si
  • Tukiainen T; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Minikel EV; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Stenson PD; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.
  • Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.
  • Huang KH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Sullivan TJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Nedzel J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Bustamante CD; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Li JB; Department of Genetics, Stanford University, Stanford, CA, USA.
  • Daly MJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Guigo R; Center for Genomic Regulation (CRG), Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain.
  • Donnelly P; Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK. Department of Statistics, University of Oxford, Oxford, UK.
  • Ardlie K; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Sammeth M; Center for Genomic Regulation (CRG), Universitat Pompeu Fabra (UPF), Barcelona, Catalonia, Spain. National Institute for Scientific Computing (LNCC), Petropolis, Rio de Janeiro, Brazil.
  • Dermitzakis ET; Department of Genetic Medicine and Development,University of Geneva, Geneva, Switzerland. Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland. Swiss Institute of Bioinformatics, Geneva, Switzerland.
  • McCarthy MI; Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK. Oxford Center for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, UK.
  • Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA. Department of Pathology, Stanford University, Stanford, CA, USA.
  • Lappalainen T; Department of Genetics, Stanford University, Stanford, CA, USA. Department of Genetic Medicine and Development,University of Geneva, Geneva, Switzerland. Institute for Genetics and Genomics in Geneva (iGE3), University of Geneva, Geneva, Switzerland. Swiss Institute of Bioinformatics, Geneva, Switze
  • MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. Department of Medicine, Harvard Medical School, Boston, MA, USA. rivas@well.ox.ac.uk tlappalainen@nygenome.org macarthur@atgu.mgh.harvard.edu.
Science ; 348(6235): 666-9, 2015 May 08.
Article in En | MEDLINE | ID: mdl-25954003
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Proteins / Genome, Human / Gene Expression Regulation / Transcriptome Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Science Year: 2015 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Genetic Variation / Proteins / Genome, Human / Gene Expression Regulation / Transcriptome Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Science Year: 2015 Type: Article