Current Bioinformatics Seminar
Time: 11AM Tuesdays.
Venue: Davis Auditorium and Online
29 April 2025
Enabling clinical translation and standardisation of high-throughput functional assay data
Alan RubinWEHI Bioinformatics
A central problem in precision medicine is understanding the effects of individual DNA variants. Measuring their activity in the lab provides valuable evidence for clinical interpretation but can be both time- and resource-intensive. Multiplexed assays of variant effect (MAVEs) are a family of experimental techniques that allow researchers to measure many thousands of variants in a gene or other functional element in parallel, generating a large volume of high-quality functional evidence. To support discovery and enable clinical translation, we developed MaveDB, which has been embraced by the research community as the database of record and become an authoritative source of MAVE data for national and international clinical genomics resources. To enable clinical translation and data sharing, we have developed and implemented new international data standards in collaboration with the Global Alliance for Genomics and Health (GA4GH) and the Atlas of Variant Effects (AVE) Alliance in MaveDB. This work complements ongoing efforts in Australia and internationally to train clinicians on the proper use of functional data for understanding genetic variants. Together, we are helping clinical geneticists and laboratory scientists solve variants of uncertain significance from real patients at scale.