Lara A. Muffley

Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants

The paper uses saturation genome editing to assess the functional impact of RAD51D and XRCC2 variants, showing high accuracy in distinguishing pathogenic from benign variants.

A scalable approach to resolving variants of uncertain significance

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

Saturation genome editing of BARD1 resolves VUS and provides insight into BRCA1-BARD1 tumor suppression

The paper uses saturation genome editing to evaluate BARD1 variants, resolving most variants of uncertain significance and confirming their role in tumor suppression.

Defining and Reducing Variant Classification Disparities

The paper analyzes variant classification disparities between European-like and non-European-like genetic ancestries and shows that MAVE data can reduce these disparities in VUS reclassification.