Discovering Functional DNA Elements Using Population Genomic Information: A Proof of Concept Using Human mtDNA

@article{Schrider2014DiscoveringFD,
  title={Discovering Functional DNA Elements Using Population Genomic Information: A Proof of Concept Using Human mtDNA},
  author={Daniel R. Schrider and Andrew D. Kern},
  journal={Genome Biology and Evolution},
  year={2014},
  volume={6},
  pages={1542 - 1548}
}
Identifying the complete set of functional elements within the human genome would be a windfall for multiple areas of biological research including medicine, molecular biology, and evolution. Complete knowledge of function would aid in the prioritization of loci when searching for the genetic bases of disease or adaptive phenotypes. Because mutations that disrupt function are disfavored by natural selection, purifying selection leaves a detectable signature within functional elements… 

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