Genetic & Genomic MedicinemedRxivPreprint
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…·Anna Köttgen
The paper identifies gene-metabolite associations using exome sequencing and metabolomics, revealing graded effects of rare variants on traits and diseases.
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