VIBE

VIBE prioritizes genes for genome diagnostics by matching patient Human Phenotype Ontology (HPO) codes to gene-disease associations in DisGeNET-RDF to improve interpretation of next-generation sequencing (NGS) results.

Key Features:

• HPO-based gene prioritization: Uses Human Phenotype Ontology (HPO) codes to match patient phenotypes with gene-disease associations for targeted gene ranking.
• Pipeline-compatible outputs: Produces outputs intended for integration into bioinformatic pipelines for variant annotation and prioritization.
• DisGeNET-RDF integration: Leverages the DisGeNET-RDF knowledge platform containing literature-derived gene-disease associations and curated variant-disease associations from databases.
• Benchmark evaluation: Validated in a benchmark study of 305 patient cases, reporting consistent performance with few missed cases and complementarity to other tools.

Scientific Applications:

• Clinical genomics: Prioritizes candidate genes to support molecular diagnosis and clinical interpretation of NGS-derived variant lists.
• Genomic research: Narrows candidate gene lists for follow-up studies and variant interpretation in research cohorts.

Methodology:

Analyzes patient phenotypic data encoded as HPO codes and cross-references these with gene-disease and variant-disease associations in DisGeNET-RDF to systematically prioritize genes.