Kaviar is a compilation of SNVs, indels, and complex variants observed in humans, designed to facilitate testing for the novelty and frequency of observed variants.
About
Released: January 15, 2016 (ver 160113-Public)
Kaviar contains 162 million SNV sites (including 25M not in dbSNP) and incorporates data from 35 projects encompassing 77,781 individuals (13.2K whole genome, 64.6K
exome).
Kaviar also contains 51 million short indels and subsitutions from a subset of the data sources.
Kaviar excludes cancer genomes but includes some data from cell lines and individuals affected by disease.
Efforts are made to exclude data from related individuals.
Caution: variant novelty need not imply functional or clinical relevance. Conversely, known variants may have unknown functional implications. In some cases, even the reference form may be the detrimental variant.
Using it online
Query Kaviar interactively by clicking the Query Kaviar button at left. This is approriate for small to medium size queries.
Browse other VCF downloads containing data source annotations, omitting very rare variants (compact), and/or for other versions of the reference genome.
If you find Kaviar useful for your work, please cite:
Glusman G, Caballero J, Mauldin DE, Hood L and Roach J (2011) KAVIAR: an accessible system for testing SNV novelty. Bioinformatics, doi: 10.1093/bioinformatics/btr540.
