{
  "id": 4777507,
  "title": "MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains",
  "url": "https://urgent.news/2026/08/31/metadome-2027-a-comprehensively-updated-resource-for-aggregating",
  "topic": "science",
  "section": "Science",
  "published": "2026-08-31T00:00:00.000Z",
  "source": {
    "name": "bioRxiv",
    "slug": "biorxiv",
    "url": "https://www.biorxiv.org/content/10.64898/2026.08.26.747388v1?rss=1"
  },
  "original_language": "en",
  "account": null,
  "summary": "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…",
  "key_points": [],
  "editors_take": null,
  "illustration": null,
  "coverage": {
    "outlets": 1,
    "also_reported_by": []
  },
  "ai_generated": true,
  "disclaimer": "Summaries, key points and the editor’s take are written by software from other outlets’ reporting and may contain errors — always check the linked original."
}