Kymberleigh A. Pagel

This study identifies molecular vulnerabilities in colorectal cancer by analyzing MSI and MSS tumors, revealing distinct signaling pathways and potential therapeutic targets.

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

MutPred2 identifies pathogenic amino acid variants, predicts their molecular mechanisms, and validates their functional impact in neurodevelopmental disorders.

OpenCRAVAT provides an open-source platform for variant and gene prioritization by integrating diverse data resources and computational methods.