Evaluating MAVE Functional Assays

Guidance on how to use Functional Evidence in your Clinical Practice

Functional Evidence (and how to use it)

Interested in how to use Functional Evidence?

Workshop(s) covering 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.

The workshop activities mentioned above are part 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.

Videos:

“The Clinical Genome Resource (ClinGen): An overview” - Courtney Thaxton’s presentation at the 7th Annual Mutational Scanning Symposium (2024)

"Clinical classification of variation for disease causality" - Heidi Rehm’s (keynote), presentation at the 7th Annual Mutational Scanning Symposium (2024)

Coursework / Classes:

Interpreting Genomic Variation: Overcoming Challenges in Diverse Populations (Wellcome Connecting Science)

https://www.futurelearn.com/courses/interpreting-genomic-variation-overcoming-challenges-in-diverse-populations

Course Instructor includes Julia Foreman (co-chair of DCD workstream) MAVEs are included in her section of the course