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 its members.

Results

On the basis of 241 survey responses from the genetics commun

SUBMITTER: DiStefano MT 

PROVIDER: S-EPMC7613247 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature