{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["DiStefano MT"],"funding":["British Heart Foundation","Medical Research Council","NHGRI","NHGRI NIH HHS","NHMRC","Wellcome Trust"],"pagination":["1732-1742"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7613247"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(8)"],"pubmed_abstract":["<h4>Purpose</h4>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.<h4>Methods</h4>The GenCC drafted harmonized definitions for differing levels of gene-disease validity on the basis of existing resources, and performed a modified Delphi survey with 3 rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene-disease validity assertions from its members.<h4>Results</h4>On the basis of 241 survey responses from the genetics commun"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources."],"pmcid":["PMC7613247"],"funding_grant_id":["MC_UP_1102/20","208349/Z/17/Z","U24 HG003345","200990/A/16/Z","107469/Z/15/Z","RE/18/4/34215","WT200990/Z/16/Z","208349","U24 HG006834"],"pubmed_authors":["Roberts AM","Goehringer S","Amin M","Riggs ER","Weller P","DiStefano MT","Tahiliani J","Bocchini C","Cunningham F","Ramos EM","Williams E","Rehm HL","Goldstein J","Daugherty LC","Bruford EA","Stark Z","Tweedie S","Hamosh A","Olry A","Martin CL","Coffey AJ","Ware JS","Rodwell C","Wright CF","Fitzpatrick DR","Leong IUS","Rath A","Austin-Tse C","Puzriakova A","Einhorn Y","Snow C","Balzotti M","Yates TM","Maddirevula S","Foulger RE","Amberger J","Hurles MR","Babb L","Firth HV","Alkuraya FS","Radtke K","Leigh SE","Collins H","Berg JS","McDonagh EM","Birney E"],"additional_accession":[]},"is_claimable":false,"name":"The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.","description":"<h4>Purpose</h4>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.<h4>Methods</h4>The GenCC drafted harmonized definitions for differing levels of gene-disease validity on the basis of existing resources, and performed a modified Delphi survey with 3 rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene-disease validity assertions from its members.<h4>Results</h4>On the basis of 241 survey responses from the genetics commun","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-04T02:26:06.032Z","creation":"2025-02-19T02:26:28.096Z"},"accession":"S-EPMC7613247","cross_references":{"pubmed":["35507016"],"doi":["10.1016/j.gim.2022.04.017"]}}