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Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites
Institution:1. Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK;2. Open Targets, Wellcome Genome Campus, Hinxton CB10 1SD, UK;3. British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK;4. Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Puddicombe Way, Cambridge CB2 0AW, UK;5. MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0SL, UK;6. Computational Medicine, Berlin Institute of Health at Charité – Utniversitätsmedizin Berlin, Berlin 10117, Germany;7. British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge CB2 0QQ, UK;8. National Institute for Health Research Blood and Transplant Research Unit in Donor Health and Genomics, University of Cambridge, Cambridge CB1 8RN, UK;9. Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge CB10 1SA, UK;10. Human Technopole, Palazzo Italia, Viale Rita Levi-Montalcini 1, 20157 Milan, Italy;11. NHS Blood and Transplant-Oxford Centre, Level 2, John Radcliffe Hospital, Oxford OX3 9BQ, UK;12. Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9BQ, UK;13. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK
Abstract:
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  • Keywords:metabolon  rare genetic variant  metabolomics  loss-of-function  proteomics  endophenotypes  sequencing  WES  WGS  drug targets
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