GenCC News & Articles
Gencc Marker Paper
The GenCC marker paper that describes the formation of the GenCC, the Delphi survey used to harmonize clinical validity terms, and the creation of the GenCC database is now published and available from Genetics in Medicine. Heidi Rehm and Marina DiStefano participated in a companion podcast for GenePod, GIM's podcast, to discuss the release of this paper.
Hgnc Stable Gene Symbols
Changes to gene symbols can be confusing and disruptive, especially when that gene is associated to a known phenotype, and may have been quoted in many publications, listed in testing panels, or even be used by a patient support group. The HGNC, who assigns gene symbols and names to all human genes, is aware of the potential widespread impact symbol changes can have. GenCC is collaborating with the HGNC to ensure the long-term stability of gene symbols. Every gene with a curated disease association will be reviewed by the HGNC to check that there is nothing misleading, incorrect or offensive in the nomenclature. Any problematic gene symbols may be updated in line with revised HGNC guidelines, following consultation with the research community. After they have been reviewed gene symbols are marked as ‘stable’ on the HGNC website. It is hoped that some necessary change now will mean fewer changes in the future, as well as improved communication and data retrieval for everyone. HGNC have already stabilized the symbols of over 2000 genes and over 1000 of these have GenCC disease curations.
7th Ga4gh Plenary
GenCC members Ellen McDonagh (Genomics England), Heidi Rehm (ClinGen), and Zornitza Stark (Australian Genomics) hosted a panel discussion about curation at the 7th Plenary for the Global Alliance For Genomic Health (GA4GH) on October 22, 2019 in Boston, Massachusetts, USA.
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.
International Society For Biocuration 2019
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.
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.