difficult to scale up to many model organism genomes. Nevertheless, for human genomes, SIFT/PolyPhen scores for all possible non-synonymous mutations can be computed, so they can be utilized for fast annotation of novel SNVs. Fourth, although it is feasible to build a database with pre-calculated annotation for all 9 billion possible SNVs in the human genome, such databases cannot be easily updated when new annotation information is available, and they cannot handle insertions or deletions. Finally, the development of many current databases and web servers are geared toward the human genome, and cannot be utilized when sequences from non-human genomes need to be annotated. Therefore, there is a strong community need for efficient, configurable, extensible and cross-platform compatible tools to utilize update-to-date information to annotate genetic variants from diverse genomes. The software that we present here, ANNOVAR (Annotate Variation), was developed to fill these unmet needs.
