Author
Walter and Eliza Hall Institute of Medical ResearchORCID 0000-0001-7511-0990Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Abbye E. McEwen, Jeremy Stone, Malvika Tejura…·Alan F. Rubin
MaveMD provides a clinical interface for MAVE data to classify variants of uncertain significance and improve genetic medicine outcomes.
Carina G Biar, Ziyu R. Wang, Nathan D. Camp…·Jeffrey Dennis Calhoun
Abundance scores for 8,891 TSC2 missense variants, plus mTOR pathway activity scores for 391, were calibrated to ACMG/AMP evidence. They putatively reclassify 212 of 276 clinical-cohort missense VUS.
Renee C. Geck, Melinda K. Wheelock, Rachel L. Powell…·Maitreya J. Dunham
The paper classifies G6PD variants using functional assays to identify clinically relevant variants and those unlikely to contribute to G6PD deficiency.
Nick Moore, Callum J. Sargeant, Matthew John Wakefield…·Alan F. Rubin
CountESS provides a flexible, graphical pipeline for DMS analysis, supporting diverse workflows and input formats to generate variant scores.