Tracy M. Bryan

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

The paper shows that nuclear actin and replication stress regulate telomerase recruitment to telomeres via ATR and mTOR, enabling telomere length maintenance in human cells.

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

The paper identifies over 650,000 i-motif structures in human genomic DNA using immunoprecipitation and sequencing, showing their widespread distribution and association with highly expressed genes and G0/G1 phase upregulated genes.

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