Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Sign Up to like & getrecommendations! Published in 2025 at "Nature Genetics"
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
Mosaic patterns of selection in genomic regions associated with diverse human traits
Sign Up to like & getrecommendations! Published in 2022 at "PLOS Genetics"
DOI: 10.1371/journal.pgen.1010494
Abstract: Natural selection shapes the genetic architecture of many human traits. However, the prevalence of different modes of selection on genomic regions associated with variation in traits remains poorly understood. To address this, we developed an… read more here.
Keywords: gwass; selection genomic; regions associated; human traits ... See more keywords