Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
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DOI: 10.1038/s41588-024-01965-7
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… read more here.
Keywords: graded effects; rare damaging; reveals graded; exome sequencing ... See more keywords