Article

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

2026-08-31

Abstract excerpt

The interpretation of missense variants remains a major challenge in clinical genetics. "Meta-domains" aggregate population and pathogenic variation across homologous Pfam domain instances in the human proteome, providing per-residue context for interpreting variants of uncertain significance (VUS). Our 2019 implementation, MetaDome, is widely used and named in clinical variant-classification guidelines. Here we p...

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Literature Corpus work: 22d95860-f80d-5d8e-b7c0-43f0e8f4b611
DOI: 10.64898/2026.08.26.747388

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