The GA4GH Categorical Variation Representation Specification: A Unified Computational Framework for Reasoning over Genomic Variant Categories
Daniel Puthawala, Brendan Michael Reardon, Lawrence Babb, Kori Kuzma, James Stevenson, Wesley Goar, Robert H. Dolin, Robert R. Freimuth, Catherine Procknow, Beth A. Pitel, Parijat Kundu, Akash Rampersad, Eliezer M. Van Allen, Alex Handler Wagner
The paper introduces Cat-VRS, a framework for computable representation of genomic variant categories to improve data interoperability and clinical interpretation.
bioRxiv · Apr 30, 2026 · PreprintGenomics