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Using the Neandertal genome to study the evolution of small insertions and deletions in modern humans.

Manjusha ChintalapatiMichael DannemannKay Prüfer
Published in: BMC evolutionary biology (2017)
Our results are in agreement with earlier results that suggested that deletions evolve under more constraint than insertions. When considering Neandertal introgressed variants, we find some evidence that negative selection affected these variants more than other variants segregating in modern humans. Among introgressed variants we also identify indels that may influence the phenotype of their carriers. In particular an introgressed deletion associated with a decrease in the time to menarche may constitute an example of a former Neandertal-specific trait contributing to modern human phenotypic diversity.
Keyphrases
  • copy number
  • genome wide
  • endothelial cells
  • dna methylation
  • gene expression