Coupling of metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and resulting traits and diseases
Nora Scherer, Daniel Fässler, Oleg Borisov, Yurong Cheng, Pascal Schlosser, Matthias Wuttke, Suraj Patil, Heike Meiselbach, Fabian Telkämper, Urs Berger, Sarah Catharina Grünert, Peggy Sekula, Ulla T. Schultheiß, Yong Li, Michael Köttgen, , Anna Köttgen
The paper identifies gene-metabolite associations using exome sequencing and metabolomics, revealing graded effects of rare variants on traits and diseases.
medRxiv · Oct 17, 2023 · PreprintGenetic & Genomic Medicine