biostudies-literatureDiStefano MTBritish Heart FoundationMedical Research CouncilNHGRINHGRI NIH HHSNHMRCWellcome Trust1732-1742https://www.ebi.ac.uk/biostudies/studies/S-EPMC7613247biostudies-literatureUnknown24(8)<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 communGenetics in medicine : official journal of the American College of Medical GeneticsThe Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.PMC7613247MC_UP_1102/20208349/Z/17/ZU24 HG003345200990/A/16/Z107469/Z/15/ZRE/18/4/34215WT200990/Z/16/Z208349U24 HG006834Roberts AMGoehringer SAmin MRiggs ERWeller PDiStefano MTTahiliani JBocchini CCunningham FRamos EMWilliams ERehm HLGoldstein JDaugherty LCBruford EAStark ZTweedie SHamosh AOlry AMartin CLCoffey AJWare JSRodwell CWright CFFitzpatrick DRLeong IUSRath AAustin-Tse CPuzriakova AEinhorn YSnow CBalzotti MYates TMMaddirevula SFoulger REAmberger JHurles MRBabb LFirth HVAlkuraya FSRadtke KLeigh SECollins HBerg JSMcDonagh EMBirney EfalseThe Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.<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 commun2022-01-01T00:00:00Z2022 Aug2025-04-04T02:26:06.032Z2025-02-19T02:26:28.096ZS-EPMC76132473550701610.1016/j.gim.2022.04.017