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

URN to cite this document:: urn:nbn:de:bvb:355-epub-765640
DOI to cite this document:: 10.5283/epub.76564

Scherer, Nora ; Fässler, Daniel ; Borisov, Oleg ; Cheng, Yurong ; Schlosser, Pascal ; Wuttke, Matthias ; Haug, Stefan ; Li, Yong ; Telkämper, Fabian ; Patil, Suraj ; Meiselbach, Heike ; Wong, Casper ; Berger, Urs ; Sekula, Peggy ; Hoppmann, Anselm ; Schultheiss, Ulla T ; Mozaffari, Sahar ; Xi, Yannan ; Graham, Robert ; Schmidts, Miriam ; Köttgen, Michael ; Oefner, Peter J.

; Knauf, Felix ; Eckardt, Kai-Uwe ; Grünert, Sarah C ; Estrada, Karol ; Thiele, Ines ; Hertel, Johannes ; Köttgen, Anna

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Date of publication of this fulltext: 14 Apr 2025 06:05

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Abstract

Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Complementary approaches (genetic, computational (in ...