Welcome to VUSKB

The Variants of Uncertain Significance Knowledgebase (VUSKB) is a high-resolution, integrative repository designed to systematically catalogue, annotate, and prioritize genetic variants with uncertain clinical relevance. Built to address the diagnostic ambiguity faced in clinical genetics, VUSKB unifies variant-level data with multi-omics context, population frequency metrics, computational pathogenicity predictions, and disease ontology mappings.

Leveraging advanced data integration techniques, VUSKB connects curated variants to phenotype descriptors using ontologies such as HPO (Human Phenotype Ontology) and links them with clinical annotations from trusted databases like ClinVar, OMIM, Orphanet, and HGMD. The platform is equipped with smart filters, variant impact scoring, and phenotype-driven prioritization pipelines that assist clinicians, geneticists, and researchers in variant classification and re-interpretation over time.

VUSKB also facilitates dynamic evidence aggregation from both published literature and user submissions, fostering a community-driven refinement of variant knowledge. Its robust search infrastructure supports variant-level, gene-level, and phenotype-level queries, enabling high-throughput querying, cohort-level filtering, and genotype-phenotype correlation analyses.

By facilitating the reclassification of VUS through continuous evidence layering and by supporting ACMG guideline-based interpretations, VUSKB significantly improves diagnostic yield in rare disease genomics. Ultimately, the platform plays a pivotal role in advancing precision medicine by closing the interpretation gap and accelerating clinical decision-making in complex and understudied genetic conditions.