Bibliome Variant Database

Bibliome Variant Database provides a structured repository of over one million human genetic variants extracted from primary literature to support variant interpretation and literature retrieval.

Key Features:

• Extensive Variant Collection: Contains more than one million human genetic variants that have been mapped to the human genome and derived from primary literature.
• Searchable Identifiers: Supports lookup by gene symbols, HGVS nomenclature, genomic positions, and rsIDs (Reference SNP cluster IDs).
• Structured Reference Listings: Associates each variant with literature references that include gene symbols and text descriptions as reported in the original publications.
• Genomic Location Ordering: Organizes variant entries by genomic location to enable exploration of variants within specific regions.

Scientific Applications:

• Variant interpretation: Provides literature-linked evidence to support clinical and research interpretation of individual genetic variants.
• Clinical diagnostics and personalized medicine: Supports evidence-based variant assessment for diagnostic decision-making and patient-specific analysis.
• Genomic research: Enables researchers to identify previously documented variants relevant to experimental or observational studies.

Methodology:

Variants were extracted by mining primary literature sources and mapped to the human genome.