MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains
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…
We haven't written up this one. bioRxiv has the full story — the link below goes straight to it.
