MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their variant of interest in the context of general population-based genetic variation, and provides detailed information on pathogenic variants found across homologous protein domain positions, for GRCh37 and GRCh38.
bioinformatics genetics proteins genes pathogenicity clinvar variant-annotations variant-analysis bioinformatics-databases protein-domains pfam pathogenic-variants acmg protein-annotation genetic-tolerance domain-homology variant-interpretation gnomad missense clinical-genetics
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Updated
Aug 13, 2026 - Python