The GenCC Database and Marker Paper are Now AvailableWe are pleased to announce the launch of the Gene Curation Coalition (GenCC) Database (DB). The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases. Curated gene-disease relationships are submitted by GenCC member organizations. The GenCC comprises organizations that currently provide online resources (e.g. ClinGen, DECIPHER, Genomics England PanelApp, OMIM, Orphanet, PanelApp Australia, TGMI’s G2P), as well as diagnostic laboratories that have committed to sharing their internal curated gene-level knowledge (e.g. Ambry, Illumina, Invitae, Myriad Women’s Health, Mass General Brigham Laboratory for Molecular Medicine). Our Flagship manuscript, which describes the formation of the database and the standardization of gene disease validity terms is now available from Genetics in Medicine.
Click here to go to the GenCC DB
Click here to go to our published Flagship Manuscript
Gene Validity Term Delphi Survey
To harmonize terms describing gene-disease validity, the GenCC used a Delphi method to survey both members of our GenCC organizations and the international genetics community.
A short introductory video describing the survey can be found here
Terms that were agreed upon are “Definitive, Strong, Moderate, Limited, Disputed Evidence, Refuted Evidence, Animal Model Only, and No Known Disease Relationship”.
Read about our results in the ACMG abstract and the slides presented at CCG 2019.
All member groups will now use or map to relevant harmonized terms in their curation work.