Warren van Loggerenberg

The paper evaluates imputation methods for contextual variant effects in MAVE studies, finding that method choice depends on data density and task requirements.

This study proactively evaluates the functional effects of 9790 AIRE missense variants using a reporter assay, providing evidence for 70% of previously classified variants of uncertain significance.

The paper systematically assesses the functional impact of CPOX variants under different environmental conditions, revealing mercury-dependent variant effects and improving 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 measures the functional impact of over two thousand SOD1 missense variants using saturation mutagenesis and cell-based assays, reclassifying 41% of previously uncertain variants as pathogenic.

This study functionally tests STK11 missense variants in mammalian cells, identifying pathogenic variants and providing insights for clinical interpretation.

Pacybara improves the accuracy of long-read sequencing for barcoded mutagenized libraries by addressing sequencing errors and non-unique barcodes.

This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.