The Clinical Genomic Variation Landscape
Wesley Goar, Daniel Puthawala, Kori Kuzma, Anastasia Bratulin, Austin A. Antoniou, Jeremy A. Arbesfeld, Lawrence J. Babb, Kyle Ferriter, Terry O’Neill, James Stevenson, Kathryn Perry, Matthew Cannon, Jiachen Liu, Xue‐Lu Liu, Brian Walsh, , Alex Handler Wagner
The paper evaluates challenges in genomic variant representation across resources and develops normalization methods to improve clinical outcome associations.
medRxiv · Nov 4, 2025 · PreprintGenetic & Genomic Medicine