{"doi":"10.1101/2022.01.03.21268593","title":"The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources","abstract":"PURPOSE Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a gene in disease, and a single harmonized resource were lacking. To tackle this issue, the Gene Curation Coalition (GenCC) was formed. METHODS The GenCC drafted harmonized definitions for differing levels of gene-disease validity based on existing resources, and performed a modified Delphi survey with three rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene-disease validity assertions from its members. RESULTS Based on 241 survey responses from the genetics community, a consensus term set was chosen for grading gene-disease validity and database submissions. As of December 2021, the database contains 15,241 gene-disease assertions on 4,569 unique genes from 12 submitters. When comparing submissions to the database from distinct sources, conflicts in assertions of gene-disease validity ranged from 5.3% to 13.4%. CONCLUSION Terminology standardization, sharing of gene-disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing and variant interpretation.","journal":"medRxiv","year":2022,"id":296805,"datarank":0.575421602056081,"base_score":2.8903717578961645,"endowment":2.8903717578961645,"self_citation_contribution":0.4335557636844247,"citation_network_contribution":0.14186583837165617,"self_endowment_contribution":0.4335557636844247,"citer_contribution":0.14186583837165617,"corpus_percentile":65.91629921868956,"corpus_rank":4407,"citation_count":17,"citer_count":8,"citers_with_citation_signal":6,"citers_with_endowment":6,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.9149,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":935018,"name":"Scott Goehringer","orcid":"0000-0002-8016-0076","position":1,"is_corresponding":false},{"id":95725,"name":"Lawrence Babb","orcid":"0000-0002-2455-2227","position":2,"is_corresponding":false},{"id":291081,"name":"Fowzan S. 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