A novel class of non-coding variants driving DNA double-strand breaks is associated with complex genetic diseases
Sébastien Auber, Sarah Collins, Andrey Buyan, Ariuna Z Aiusheeva, Anne-Laure Finoux, Florian Saur, Sarah Cohen, Vincent Rocher, Coline Arnould, Marie Verbanck, Ivan V. Kulakovskiy, Gaëlle Legube, Raphaël Mourad
The paper identifies a new class of non-coding variants, dsbSNPs, that modulate DNA double-strand break frequency and are enriched in GWAS associations for complex diseases.
medRxiv · Oct 16, 2025 · PreprintGenetic & Genomic Medicine