Dear gnomAD Team,
I propose integrating ACMG criteria assignments from the GeneBe platform into the gnomAD dataset (published in 2024, Implementation and Validation of an Automatic ACMG Variant Pathogenicity Criteria Assignment ). GeneBe automates the application of ACMG/AMP/CAP criteria for genetic variant pathogenicity assessment, providing valuable insights that extend beyond traditional in silico predictors. Including these criteria on gnomAD’s variant description pages would significantly benefit researchers and clinical geneticists. I’m ready to provide a snapshot of these criteria and collaborate on the integration.
Having ACMG criteria readily available on gnomAD would enhance variant interpretation, as these criteria provide a much broader overview of the variant compared to, for example, in silico predictors.
For more details, please visit GeneBe and read the publication.
Best regards,
Piotr Stawinski
Author of GeneBe