{"doi":"10.5281/zenodo.17538259","title":"Workshop Report: Functional evidence and how to use it workshop, November 2023","abstract":"This document reports the findings from the “Functional Evidence and how to use it” 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 shared 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. This report was generated from the results of the consultation polls, linked at the end of this record. The workshop was an activity of the AusMAVE Education Project. The AusMAVE 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 AusMAVE Education Project and represents part of a developing project supporting functional evidence use.","journal":"Zenodo (CERN European Organization for Nuclear Research)","year":2023,"id":415988,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8042,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2023-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":55382,"name":"Amanda B. Spurdle","orcid":"0000-0003-1337-7897","position":1,"is_corresponding":false},{"id":561883,"name":"Alan F. Rubin","orcid":"0000-0003-1474-605X","position":2,"is_corresponding":false},{"id":1197386,"name":"Rehan M. Villani","orcid":"0000-0001-8857-6271","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-19T01:22:15.958504Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}