Access GenCC Member Results (Coming Soon!)Work is underway to publicly display gene-disease validity curation results from GenCC member groups.
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.