Dr Alan Rubin
Senior Research Fellow - Specialist
Centre for Cancer Research
57 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
An integrated, scaled approach to resolve TSC2 variants of uncertain significance.
DOI: 10.1038/s41467-026-75442-62026
Journal article
Image-based, pooled phenotyping reveals multidimensional, disease-specific variant effects
DOI: 10.1016/j.cell.2026.04.0312026
Journal article
Evidence for G6PD variant classification from multiplexed functional assays.
DOI: 10.1186/s13059-026-04105-y2026
Journal article
VEFill: accurate and generalizable deep mutational scanning score imputation across protein domains
DOI: 10.1038/s44320-026-00203-y2026
Journal article
CountESS: a flexible, graphical pipeline tool for deep mutational scanning analysis.
DOI: 10.64898/2026.04.27.7212302026
Journal article
ClinGen API platform for classification of human genetic variants
DOI: 10.1016/j.xgen.2026.1012112022
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
2026
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-y