Article

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

2023-10-19

Abstract excerpt

Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using WES-based rare variant aggregation testing to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Validation through genetic and new computational approaches ( in silico gene knockouts in whole-body m...

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Literature Corpus work: 595cd5d0-9714-54d8-acd6-24fb127eeff1
DOI: 10.1101/2023.10.17.23297094

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