Functional Category-Specific Intolerance Reflects Genic Function and Clinical Relevance
Yuncheng Duan, Constantine Stavrianidis, Grace Tzun-Wen Shaw, Christopher J. Sottolano, Ramakrishnan Rajagopalan, Tanaya Jadhav, Grace E. Rhodes, Tristan J. Hayeck, Andrew S. Allen
This paper introduces CATMINT, a method to estimate gene-level intolerance across variant categories, showing it outperforms existing metrics and reveals category-specific intolerance patterns in disease genes.
bioRxiv · Sep 24, 2025 · PreprintEvolutionary Biology