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

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

Mapping MAVE data for use in human genomics applications

Jeremy A. Arbesfeld, Estelle Y. Da, James Stevenson, Kori Kuzma, Anika Paul, Tierra R. Farris, Benjamin J. Capodanno, Sally B. Grindstaff, Kevin P. Riehle, Nuno Saraiva-Agostinho, Jordan F. Safer, Jonathan Casper, Maximilian Haeussler, Aleksandar Milosavljevic, Julia Foreman, , Alex Handler Wagner

The paper maps MAVE data to human reference sequences to improve variant functional assay utility for genomics applications.

Genome biology · Jun 25, 2025Peer-reviewedBioinformatics

Development and application of a computable genotype model in the GA4GH Variation Representation Specification

Wesley Goar, Lawrence J. Babb, Srikar Chamala, Melissa Cline, Robert R. Freimuth, Reece K. Hart, Kori Kuzma, Jennifer Lee, Tristan H. Nelson, Andreas Prlić, Kevin P. Riehle, Anastasia L. Smith, Kathryn Stahl, Andrew D. Yates, Heidi L. Rehm, Alex Handler Wagner

The paper develops and applies a computable genotype model within the GA4GH Variation Representation Specification to enable precise and interoperable representation of genomic variation data.

Pacific Symposium on Biocomputing (PSB) · Nov 1, 2022Peer-reviewedBioinformatics