MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains
Laurens Wiel, Federico Ferraro, Jay Yu, Jimmy Zhen, Daniel C. Nachun, Rodrigo Mendez, Chloe M. Reuter, Jason L. Cui, Devon E. Bonner, Jennefer N. Carter, Shruti Marwaha, Maartje van de Vorst, Sara Emami, Elijah Kravets, Matthew B. Neu, , 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.
Nucleic Acids Research · Oct 18, 2026Peer-reviewedBioinformatics✦ In-depth digest