ANNOVAR
- Status
- released
- Title
- ANNOVAR
- Description
- ANNOVAR is an efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from diverse genomes (including human genome hg18, hg19, as well as mouse, worm, fly, yeast and many others). Given a list of variants with chromosome, start position, end position, reference nucleotide and observed nucleotides, ANNOVAR can perform: (i) Gene-based annotation: identify whether SNPs or CNVs cause protein coding changes and the amino acids that are affected. (ii) Region-based annotations: identify variants in specific genomic regions, for example, conserved regions among 44 species, predicted transcription factor binding sites, segmental duplication regions, GWAS hits, database of genomic variants, DNAse I hypersensitivity sites, ENCODE H3K4Me1/H3K4Me3/H3K27Ac/CTCF sites, ChIP-Seq peaks, RNA-Seq peaks, or many other annotations on genomic intervals. (iii) Filter-based annotation: identify variants that are reported in dbSNP, identify the subset of common SNPs (MAF>1%) in the 1000 Genome Project, identify subset of non-synonymous SNPs with SIFT score>0.05, find intergenic variants with GERP++ score>2, or many other annotations on specific mutations.
- Publications
Software versions
Version | Download checksum |
|---|---|
| 2015Mar22 |