A Vanderbilt University-led team has developed a computational approach to gauge which types of evolutionary forces are at work at various genomic regions. As they report in PLOS Genetics, the researchers applied their framework, which considers nearly a dozen evolutionary measures, to data from more than 900 genome-wide association studies and generated an atlas of evolutionary signatures associated with a range of traits. They found, for instance, high levels of sequence conservation in most trait-association regions as well as signs of population differentiation for traits related to hair, skin, and pigmentation. Meanwhile, they noted a broad negative enrichment for signatures of balancing selection and that regions linked to late-onset Alzheimer's disease had an absence of enrichment for any evolutionary signatures. "In summary, our quantification of genomic signatures of selection on trait-associated regions advances our understanding of the genetic architecture of complex traits and illuminates the diverse forces that have shaped functional regions of the human genome," the researchers write.
Computational Approach Quantifies Signatures of Selection Across the Genome
Nov 08, 2022