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Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.

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Title: Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
Authors: Scherer N; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Spemann Graduate School of Biology and Medicine, University of Freiburg, Freiburg, Germany., Fässler D; Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany., Borisov O; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Cheng Y; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Schlosser P; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany., Wuttke M; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Department of Medicine IV, Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Haug S; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Li Y; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Telkämper F; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Patil S; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Spemann Graduate School of Biology and Medicine, University of Freiburg, Freiburg, Germany.; Department of Medicine IV, Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Faculty of Biology, University of Freiburg, Freiburg, Germany., Meiselbach H; Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Wong C; Research, Maze Therapeutics, South San Francisco, CA, USA., Berger U; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Sekula P; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Hoppmann A; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Schultheiss UT; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Department of Medicine IV, Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; SYNLAB MVZ Humangenetik Freiburg, Freiburg, Germany., Mozaffari S; Research, Maze Therapeutics, South San Francisco, CA, USA., Xi Y; Research, Maze Therapeutics, South San Francisco, CA, USA., Graham R; Research, Maze Therapeutics, South San Francisco, CA, USA., Schmidts M; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany.; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Köttgen M; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany.; Department of Medicine IV, Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Oefner PJ; Institute of Functional Genomics, University of Regensburg, Regensburg, Germany., Knauf F; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany., Eckardt KU; Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Estrada K; Research, Maze Therapeutics, South San Francisco, CA, USA., Thiele I; School of Medicine, University of Galway, Galway, Ireland.; Ryan Institute, University of Galway, Galway, Ireland.; Division of Microbiology, University of Galway, Galway, Ireland.; APC Microbiome Ireland, Cork, Ireland., Hertel J; Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany. johannes.hertel@med.uni-greifswald.de.; German Centre for Cardiovascular Research (DZHK), partner site Greifswald, Greifswald, Germany. johannes.hertel@med.uni-greifswald.de., Köttgen A; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany. anna.koettgen@uniklinik-freiburg.de.; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. anna.koettgen@uniklinik-freiburg.de.; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany. anna.koettgen@uniklinik-freiburg.de.
Source: Nature genetics [Nat Genet] 2025 Jan; Vol. 57 (1), pp. 193-205. Date of Electronic Publication: 2025 Jan 02.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
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Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.; Centre for Integrative Biological Signalling Studies, Albert-Ludwigs-Universität Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Wuttke+M%22">Wuttke M</searchLink>; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Department of Medicine IV, Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Haug+S%22">Haug S</searchLink>; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Telkämper+F%22">Telkämper F</searchLink>; 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Institute of Functional Genomics, University of Regensburg, Regensburg, Germany.<br /><searchLink fieldCode="AU" term="%22Knauf+F%22">Knauf F</searchLink>; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Eckardt+KU%22">Eckardt KU</searchLink>; Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Grünert+SC%22">Grünert SC</searchLink>; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Estrada+K%22">Estrada K</searchLink>; Research, Maze Therapeutics, South San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Thiele+I%22">Thiele I</searchLink>; 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