Novel Epistatic Interaction Between RBMS3 and CDKN2B-AS1 in Coronary Artery Disease Risk Identified by Machine Learning Tool VariantSpark
Letitia M.F. Sng, Mitchell J. O’Brien, Brendan Hosking, Piotr Szul, Roc Reguant, Mythreye Venkatesan, Philip J. Freda, Zhiping Paul Wang, Jason H. Moore, Anne H. Klein, Michael J. Kuiper, Angus Panagopoulos, Johan W. H. Verjans, Yatish Jain, Denis C. Bauer, Natalie A. Twine
The paper identifies an epistatic interaction between RBMS3 and CDKN2B-AS1 in CAD risk using VariantSpark and BitEpi, with validation in UK Biobank and All of Us.
medRxiv · Oct 19, 2025 · PreprintGenetic & Genomic Medicine