Shawn Fayer

The paper classifies G6PD variants using functional assays to identify clinically relevant variants and those unlikely to contribute to G6PD deficiency.

The paper introduces VIS-seq, an image-based method to assess variant effects on cellular phenotypes, revealing multidimensional variant impacts across different diseases.

This paper improves variant effect predictors by calibrating them gene- and domain-aware, increasing evidence assignment and accuracy for variant classification.

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

The paper develops iPSC-SGE to assess variant effects in diverse genetic and cell contexts, identifying pathogenic variants and essential disease genes.

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

This paper introduces ExCALIBR, a method to calibrate variant scores from functional assays, improving pathogenicity prediction and reducing variants of uncertain significance.

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.

The paper introduces an information content score to quantify the clinical value of MAVEs, showing it captures more information than just reclassifying variants.

The paper introduces MultiSTEP, a method to assess variant effects in secreted proteins, and applies it to coagulation factor IX, identifying functional variants and reclassifying uncertain ones.

This study uses hiPSC-derived cardiomyocytes to assess MYH7 variants' effects, showing pathogenic variants reduce protein abundance and cell survival.

CRaTER enriches for on-target gene-edited cells in hiPSCs, enabling efficient generation of variant libraries for studying cardiomyopathy-associated mutations.