Author
Walter and Eliza Hall Institute of Medical ResearchORCID 0000-0002-9313-7860Unclaimed 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.
Malvika Tejura, Y P Chen, Abbye E. McEwen…·Lea M. Starita
The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.
Jeremy A. Arbesfeld, Estelle Y. Da, James Stevenson…·Alex Handler Wagner
The paper maps MAVE data to human reference sequences to improve variant functional assay utility for genomics applications.
Alan F. Rubin, Joseph Min, Nathan J. Rollins…·Douglas M. Fowler
MaveDB v2 curates over three million variant effects from MAVE studies to facilitate analysis and dissemination of functional assay data.