Alexander Wahl

Environment-dependent landscapes of coding variant impacts on coproporphyrinogen oxidase

The paper systematically assesses the functional impact of CPOX variants under different environmental conditions, revealing mercury-dependent variant effects and improving variant classification.

The ten year evolution of Sherloc, a points-based framework for genetic variant classification

The paper evaluates how updates to the Sherloc variant classification framework reduced variants of uncertain significance (VUS) and improved accuracy over time.

Landscapes of missense variant impact for human superoxide dismutase 1

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.

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification

The paper develops a machine learning platform to improve variant classification, reducing VUS rates and improving concordance with ClinVar submissions.

A missense variant effect map for the human tumour suppressor protein CHK2

The paper creates a functional map of all possible missense variants in CHK2 to assess their impact on cancer risk.