Article
A proposed general variant classification framework using chronic pancreatitis as a disease model
2022-06-06
Abstract excerpt
The widely used ACMG-AMP variant classification categories (pathogenic, likely pathogenic, uncertain significance, likely benign and benign) were specifically developed for variants in Mendelian disease genes, classifying variants discretely with respect to a simple causal versus benign dichotomy. A general variant classification framework taking into account the continuum of clinical phenotypes, the continuum of...
Topics
Open a Topic to create a Post that cites this publication.
Identifiers and source
- Literature Corpus work
- 2b12ca2f-0eb8-58b4-a555-714b64414f4f
- DOI
- 10.1101/2022.06.03.22275950