ANNOVAR, functional annotation of genetic variants from high-throughput sequencing data, is an efficient command line Perl program to functionally annotate genetic variants from diverse genomes (including human genome hg18, hg19, as well as mouse, worm, fly, yeast and many others).
High-throughput sequencing platforms are generating massive amounts of genetic variation data, and it remains a challenge to pinpoint a small subset of functionally important variants. ANNOVAR was developed to fill the need and shortlist single nucleotide variants and insertions/deletions, by up-to-date annotation, examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1000 Genomes project and dbSNP.
Genome TraxTM, which includes data from HGMD®, PROTEOMETM and TRANSFAC®, is fully compatible with ANNOVAR for the most comprehensive analysis. With ANNOVAR and Genome Trax™ combined you can identify and annotate known disease causing inherited mutations in your data-set. It is also possible to identify known transcription factor binding sites and pathway, drug and disease relations. ANNOVAR is cited by over 200 scientific publications.