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  • Sana_04
    Junior Member
    • Oct 2025
    • 1

    #1

    VUSkb, one place to triage VUS with ACMG evidence, literature, and ClinVar alerts: feedback welcome!

    Hi everyone, I’m part of the Vgenomics team that built VUSkb (vuskb.com). We created it to reduce the time spent jumping across browsers/spreadsheets when classifying variants of uncertain significance (VUS) in clinical and research workflows.

    What it does (in brief):
    1. Aggregates evidence from 50+ sources (e.g., OMIM, ClinVar, UniProt, PDB, KEGG, dbSNP) into a single record.
    2. Applies ACMG/AMP guidance with explainable steps and source tracebacks.
    3. Runs real-time ClinVar surveillance with automated alerts so you don’t miss reclassifications.
    4. Adds literature mining beyond ClinVar (PubMed) and shows sequence/structure impact with 20+ in silico tools.
    Current coverage: 2.11M VUS across 18,511 genes and 25,090 diseases.

    I’d love feedback on any must-have things we’re missing for your use case.

    Link: vuskb.com (public site; no tracking). Happy to answer technical questions here and incorporate suggestions.
    VUSKB - A comprehensive repository for genetic variants of uncertain clinical significance, advancing precision medicine and genomic research!

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