Kirsten M. Farncombe

The paper describes the development of variant classification specifications for the VHL gene using ACMG/AMP guidelines, resulting in updated evidence codes and improved classification consistency.

This study evaluates an integrated liquid biopsy approach for early cancer detection in Li-Fraumeni syndrome patients, showing improved detection rates compared to individual methods.

GeneTerpret streamlines genomic variant interpretation by integrating multiple data sources and ACMG criteria to prioritize potentially causal variants for a given genome and phenotype.

The paper describes the evolution of the CIViC knowledgebase to meet the needs of the cancer variant interpretation community by expanding its functionality and data types.