Global InformationANNOVAR information
ANNOVAR (ANNOtate VARiation) is a bioinformatics software tool for the interpretation and prioritization of single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs) of a given genome.[1]
It has the ability to annotate human genomes hg18, hg19, hg38, and model organisms genomes such as: mouse (Mus musculus), zebrafish (Danio rerio), fruit fly (Drosophila melanogaster), roundworm (Caenorhabditis elegans), yeast (Saccharomyces cerevisiae) and many others.[2] The annotations could be used to determine the functional consequences of the mutations on the genes and organisms, infer cytogenetic bands, report functional importance scores, and/or find variants in conserved regions.[2] ANNOVAR along with SNP effect (SnpEFF) and Variant Effect Predictor (VEP) are three of the most commonly used variant annotation tools.
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