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 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 it..