Article
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.
American journal of human genetics - 4 Sept 2025
Wang Yuan-Chen, Masson Emmanuelle, Wang Qi-Wen, Génin Emmanuelle, Le Gac Gérald, Fichou Yann, Cooper David N, Liao Zhuan, Férec Claude, Zou Wen-Bin, Chen Jian-Min
Abstract excerpt
The widely used American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) variant classification system is inherently limited by its binary categorization of variants as "pathogenic" or "benign," failing to account for the full spectrum of variant effects within the complex genetic architecture of human disease. Although various refinements have been proposed, a framework...
Topics
- Humans
- Trypsin Inhibitor, Kazal Pancreatic
- Pancreatitis, Chronic
- Genome-Wide Association Study
- Genetic Predisposition to Disease
- Genetic Variation