Dr Alan Rubin
Senior Research Fellow - Specialist
Centre for Cancer Research
53 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
ClinGen API platform for classification of human genetic variants
DOI: 10.1016/j.xgen.2026.1012112026
Journal article
VEFill: accurate and generalizable deep mutational scanning score imputation across protein domains
DOI: 10.1038/s44320-026-00203-y2026
Journal article
P456: Community co-designed workshops build confidence in the use of functional evidence for variant classification
DOI: 10.1016/j.gimo.2026.1039482026
Journal article
P487: MaveMD: A functional data resource for genomic medicine*
DOI: 10.1016/j.gimo.2026.1039792025
Journal article
Mapping MAVE data for use in human genomics applications
DOI: 10.1186/s13059-025-03647-x2025
Journal article
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
DOI: 10.1186/s13059-025-03476-y2022
Research grants (ARC, NHMRC, MRFF)
Advancing Genetic Diagnosis and Health by Leveraging High-Throughput Functional Assay Data Into Existing Disease-Agnostic Variant Platforms
RECENT SCHOLARLY WORKS
2025
Journal article
19. Expanding MAVE data maps for use in human genomics applications
DOI: 10.1016/j.cancergen.2025.10.0232025
Journal article
Evidence for G6PD variant classification from multiplexed functional assays.
DOI: 10.1101/2025.08.11.6697232025
Journal article
Variant scoring tools for deep mutational scanning
DOI: 10.1038/s44320-025-00137-x2025
Journal article
VEFill: a model for accurate and generalizable deep mutational scanning score imputation across protein domains.
DOI: 10.1101/2025.05.14.653991