The GenCC Database and Marker Paper are Now Available
We 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
Our Members
17
Member Organizations The GenCC organizations maintain resources that provide information pertaining to the validity of gene-disease relationships or curate this information as clinical testing laboratories. View GenCC MembersGenCC Projects
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.
News & Updates
The GenCC hosts a workshop at the 6th GA4GH Plenary
GenCC members Heidi Rehm (ClinGen) and Ellen McDonagh (Genomics England) hosted a workshop about curating gene disease validity at the 6th Plenary for the Global Alliance For Genomic Health (GA4GH) on October 3, 2018 in Basel, Switzerland.
The GenCC presents at ACMG 2019
Marina DiStefano, on behalf of the GenCC, reported on the results of the Delphi survey at the 2019 ACMG Annual Clinical Genetics Meeting in Seattle, Washington on April 3, 2019 during the Laboratory Genetics and Genomics platform session.
The GenCC hosts a workshop at the International Society for Biocuration 2019 Conference
GenCC members Ellen McDonagh (Genomics England), Rebecca Foulger (Genomics England), Marina DiStefano (ClinGen), and Antoine Marmignon (Orphanet) hosted a workshop about curating gene disease validity at the International Biocuration Society Conference on April 8, 2019 in Cambridge UK.
The GenCC Presents at Curating the Clinical Genome 2019
Marina DiStefano, on behalf of the GenCC, presented on the results of the Delphi survey at the Curating the Clinical Genome Conference on May 31, 2019 in Washington DC.