New paper: Hotspots of structural variation


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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