Rehan Marie Villani

The paper evaluates how different truthset strategies affect evidence points (EPs) in clinical validation of functional assays across 2,120 gene-truthset-assay combinations.

The paper establishes consensus guidelines for constructing truthsets to validate functional assays in cancer variant interpretation, focusing on missense variants and clinical validation frameworks.

The paper recalibrates BAP1 MAVE data for different disease phenotypes to enable accurate variant classification across related disorders.

The paper presents a workshop-based approach to improve confidence and standardize the use of functional evidence in variant classification through community discussion and consultation.

The paper surveys NHS clinical scientists on their acceptance of MAVE data validation, finding that trusted central bodies are needed for clinical adoption.

The paper surveys genetic professionals on functional evidence use in variant classification and identifies the need for expert recommendations and guidelines.

The paper calibrates bioinformatic tools to classify 5' cis-regulatory variants in Mendelian disease using clinical and population datasets, finding optimal thresholds differ from coding variant standards.