NCBI's Variation Resources: Updates and Current Status

The increasing availability of genetic variation data makes it critical to have resources for efficient analysis. NCBI provides a suite of databases, tools, and browsers for variant analysis in plant and animal genomes. The Database of Short Genetic Variations (dbSNP) and Database of Genomic Structural Variation (dbVar) are the archives of genetic variation and have a broad scope, accepting submissions for neutral and pathogenic variations from all plant and animal species. dbSNP’s upcoming redesign, to better accommodate the volume of data and to define variations based on their genomic location rather than their flanking sequence, will be discussed. This workshop will also describe tools for variation analysis, such as NCBI’s Genome Remapping Service which maps features, such as variations, between different genome assemblies. Human-specific resources such as ClinVar, a database of clinical assertions for variations and phenotypes, and the 1000 Genomes Browser, are also useful for investigating the human ortholog of your favorite gene in other animal genomes. Other resources that are currently human-specific will be expanded to support other genomes; these include Variation Reporter, which allows bulk query of dbSNP and dbVar, and Variation Viewer, a genome browser for all types of variation data at NCBI. Suggestions for additional species to support are welcome.