Workshop June 2024: Functional evidence evaluation

This slide deck, entitled “Functional Evidence Evaluation”, was created for an online workshop held 19 June 2024 as part of the MAVE Education Project. The workshop discussed the central recommendations and guidelines on functional evidence use (Richards et al., 2015 and Brnich et al., 2019) along with recommendations on evaluating MAVE functional assays (Gelman et al., 2019). The workshop presented some examples across a range of functional assays. The workshop was developed in response to the discussion and activities from participants in the “Functional Evidence and how to use it” workshop in November 2023, 10.5281/zenodo.13129941, to build on information previously presented on the incorporation of functional evidence into variant classification. The workshop also provided variant case-based activities that will be translated to an accessible resource and shared at a later date.

The workshop was an activity of the MAVE Education Project. The MAVE Education Project aims to support increased use of functional data/evidence, especially with the increasing body of high throughput functional data. It is an Australian research project funded by the Medical Research Future Fund, APP2015946. The workshop was co-designed, informed by representatives of identified stakeholders in the MAVE Education Project and represents part of a developing project supporting functional evidence use.