BioinformaticsNucleic Acids ResearchPeer-reviewed
✦ In-depth digest
MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains
Laurens Wiel, Federico Ferraro, Jay Yu…·Matthew Thomas Wheeler
MetaDome now supports GRCh38 alongside GRCh37, adds coordinate lookup, and identifies 52,463 GRCh38 ClinVar missense variants of uncertain significance with uncontradicted pathogenic evidence at homologous Pfam-domain positions.
DOI 10.1093/nar/gkag1102