Work

Workshop Slides: Functional Evidence Evaluation Workshop, November 2024

Year: 2025

Type: article

Abstract: This slide deck from the Functional Evidence Evaluation Workshop 2024 was created for presentation at the Australian Functional Genomics Network Meeting, November 2024. All attending the workshop invited to participate in an associated consultation survey. The workshop discussed the central recommendations and guidelines on functional evidence use (Richards et al., 2015 and Brnich et al., 2019) and shared results from studies investigating their implementation. This activity builds on two previous workshops, November 2023, 10.5281/zenodo.13129941, June 2024 https://zenodo.org/records/13131424. 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.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.15036826

Authors: Villani, Rehan, Spurdle, Amanda

Institution: QIMR Berghofer Medical Research Institute

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

Open Access status: green

Funders: Australian Government, National Institutes of Health, National Human Genome Research Institute

Awards: G3041495775, G7593540953, The Center for Actionable Variant Analysis; measuring variant function at scale