GenCC Members

12

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. GenCC Members
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Our Results

Access GenCC Member Results (Coming Soon!)

Work is underway to publicly display gene-disease validity curation results from GenCC member groups.

GenCC Projects

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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

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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.
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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.
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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.
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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. Read the abstract here. The slides for the presentation can be found here.