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.