Kaviar

Kaviar provides an integrated database of known single nucleotide variants (SNVs) to assess whether observed genomic variants at specified coordinates have been previously reported.

Key Features:

• Integrated database: Compiles over 55 million variants, including SNVs from personal genomes, family genomes, transcriptomes, SNV databases, and population surveys.
• Efficient querying software: Enables rapid lookup of known variants at specified genomic coordinates.
• Coordinate-based novelty assessment: Reports whether an observed variant at a specific genomic location is present in the aggregated database.
• Privacy-preserving query model: Supports obtaining variant information without requiring upload of personal genomic data.

Scientific Applications:

• Genomic research: Validates and compares observed variants against a comprehensive repository of known genetic variation.
• Clinical diagnostics: Assists interpretation of sequencing results by identifying previously reported variants relevant to clinical assessment.
• Population genetics: Supports analysis of variant frequencies and distributions using compiled population survey data.

Methodology:

Kaviar aggregates variant records from multiple sources into an integrated, continuously updated database and provides software for efficient coordinate-based queries.