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Modeling the Evolutionary Architectures of Transcribed Human Enhancer Sequences Reveals Distinct Origins, Functions, and Associations with Human Trait Variation.

Molecular biology and evolution - 23 Aug 2021

Fong Sarah L, Capra John A

Abstract excerpt

Despite the importance of gene regulatory enhancers in human biology and evolution, we lack a comprehensive model of enhancer evolution and function. This substantially limits our understanding of the genetic basis of species divergence and our ability to interpret the effects of noncoding variants on human traits. To explore enhancer sequence evolution and its relationship to regulatory function, we traced the...

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PMID: 33973014
DOI: 10.1093/molbev/msab138
PMCID: PMC8382917

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