F. Ferraro

MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains

The MetaDome 2027 update is presented, featuring a comprehensively updated dataset and GRCh38 support and showing how MetaDome helped reclassify a de novo missense VUS in RALA and identify 52,463 ClinVar missense VUS for which meta-domains supply otherwise unavailable pathogenic evidence.