Workshop November 2023: Functional evidence and how to use it

This slide deck, entitled “Functional Evidence and how to use it”, was created for a workshop held 17 November 2023, at the Human Genetic Society of Australasia Special Interest Group meeting of the Australasian Society of Diagnostic Genomics. The workshop was intended to share introductory information on the evaluation of functional data and the incorporation of functional evidence into variant classification. The workshop introduced functional assays, discussed the central recommendations and guidelines (Richards et al., 2015 and Brnich et al., 2019), and then presented two functional assays for a BRCA1 variant.

The workshop was an activity of the MAVE Education Project. The MAVE Education Project aims to support increased use of functional data/evidence, especially motivated by 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.