Article
Expanding ACMG variant classification guidelines into a general framework.
Human genomics - 16 Aug 2022
Masson Emmanuelle, Zou Wen-Bin, Génin Emmanuelle, Cooper David N, Le Gac Gerald, Fichou Yann, Pu Na, Rebours Vinciane, Férec Claude, Liao Zhuan, Chen Jian-Min
Abstract excerpt
BACKGROUND: The American College of Medical Genetics and Genomics (ACMG)-recommended five variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign) have been widely used in medical genetics. However, these guidelines are fundamentally constrained in practice owing to their focus upon Mendelian disease genes and their dichotomous classification of variants...
Topics
- Cystic Fibrosis Transmembrane Conductance Regulator
- Gene Frequency
- Genetic Testing
- Genetic Variation
- Genomics
- Humans
- Pancreatitis, Chronic
- Sequence Analysis, DNA
- Trypsin Inhibitor, Kazal Pancreatic
- United States