BACKGROUND

MAVEs provide high-throughput functional data that can help elucidate the biological and clinical impact of variants. To translate this data into clinically actionable insights, the data needs to be evaluated and calibrated so that it can be applied appropriately for clinical use. The workshop is intended for clinicians, researchers and bioinformaticians alike.

Participants will learn about methods for using high throughput assays in clinical diagnostics, and will be introduced to some of the new processes and tools available, but also will have the opportunity to inform some of the field approaches to solving some of the challenges in the field. Through sharing and building resources, this workshop aims to enable those interested to translate experimental data to functional evidence for clinical use.

First, we will discuss current and developing guidance for translating functional data into evidence for variant classification. This will help participants understand how MAVE data is used in a clinical laboratory and how to apply the data in a way that aligns with the ACMG/AMP/ClinGen framework. Next, we will present new tools and resources for sharing, evaluating and using MAVE-derived functional evidence. The workshop will then focus on the new MaveMD, and will include participant consultation, extracting collated feedback to inform MaveMD and future tool development in the field. Participants will work through some demonstrator cases as instructional examples for how these tools might be applied in practice.

VENUE AND SCHEDULE

The Clinical Application Workshop will be held at the main conference venue in the Aikenhead Centre for Medical Discovery (ACMD), running March 27th 2026 - 14.00h -16:00h AEST immediately following the Symposium.

REGISTRATION

Please follow this link to register for the Clinical Application Workshop.

Workshop registration is free for any MSS26 delegates. You can register for the Mutational Scanning Symposium here.

WORKSHOP PRESENTERS

TBC