CHANGER: A novel genetic reference from 902 unrelated Chilean exomes to enhance South American medical genetics and research.
Evelin Gonzalez, Camilo Villamán, Boris Rebolledo‐Jaramillo, Carlos F. Hernández, Bernabé I. Bustos, Dominga Berrios, Gabriela Moreno Yates, Jennifer Ellen Posey, James R. Lupski, M. Cecilia Poli, Juan F. Calderón, Paula Muñoz Venturelli, Mario I Fernandez, Juan Alberto Lecarós, Ricardo Armisén, , Eduardo Pérez‐Palma
The paper presents CHANGER, a Chilean exome reference dataset of 902 unrelated individuals, to improve genetic research and variant interpretation in South American populations.
medRxiv · Jan 30, 2026 · PreprintGenetic & Genomic Medicine