Sionne E. M. Lucas

CharacTERT classifies hTERT missense variants using machine learning models that integrate sequence and structure-based features, achieving high accuracy and sensitivity in predicting pathogenicity.

This study evaluates in silico variant prediction tools for cancer genes, finding gene-specific performance issues and recommending validation for individual genes.

This paper reviews functional genomic assays for telomere biology disorder genes to assess their utility in variant classification.