Towards a complete characterization of common human polymorphic inversions and their functional effects
Jon Lerga-Jaso, Elena Campoy, Marta Puig, Illya Yakymenko, Ruth Gómez-Graciani, Ricardo Moreira-Pinhal, Teresa Soos, Alba Vilella-Figuerola, Claudia Ramírez, Carla Giner-Delgado, Roser Zaurín, Sergi Villatoro, Alejandra Delprat, Marina Laplana, Mario Cáceres
The paper characterizes common human polymorphic inversions and their functional effects, showing they are enriched in functional variants and associated with phenotypic traits.
medRxiv · Aug 5, 2026 · PreprintGenetic & Genomic Medicine