Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Kury-Isidor Syndrome
Pankhuri Gupta, Elsa V. Balton, Malvika Tejura, Runjun D. Kumar, Matthew W. Snyder, Jeremy Stone, Rehan Marie Villani, Peter H. Byers, Chanprasert Sirisak, Ian A. Glass, Martha J. Horike-Pyne, Danny E. Miller, Jane E. Ranchalis, Elisabeth A. Rosenthal, Andrew K. Solomon, , Andrew B. Stergachis
The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.
medRxiv · May 21, 2026 · PreprintGenetic & Genomic Medicine