Onta (Yen Lung Lin) led the charge in this careful characterization of regions in the genome where that lead to the recurrent formation of structural variation. The paper “Fine-scale characterization of genomic structural variation in the human genome reveals adaptive and biomedically relevant hotspots” is now published in GBE. 

This paper has given us some interesting clues into:

  • Background selection across the genome
  • Putatively adaptive mutational hotspots in the genome – especially related to immune-related traits
  • Mutational landscape of the human genome – especially related to congenital genetic disorders

For the nice press release please see Charlotte Hsu’s nice summary for UB News. 

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