ANNOVAR
|
Application data |
|
| Created by | Kai Wang |
|---|---|
| Biological application domain(s) | Genomics, Genetics |
| Principal bioinformatics method(s) | Annotation, Variant prioritisation |
| Created at | www.openbioinformatics.org |
| Maintained? | Yes |
| Software features | Gene-based annotation, region-based annotation, filter-based annotation |
| Programming language(s) | Perl |
| Licence | Commercial, Freeware |
| Operating system(s) | Linux, Windows, Mac OS X |
Summary: ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
"Error: no local variable "counter" was set." is not a number.
Description
ANNOVA is an efficient software tool to utilize update-to-date information to functionally annotate genetic variants detected from diverse genomes. Given a list of variants with chromosome, start position, end position and observed nucleotides, ANNOVAR can identify whether SNPs or indels cause protein coding changes and what is the amino acids that were changed, or identify variants in conserved genomic regions, or identify variants that are reported in dbSNP, or identify the subset of common SNPs (MAF>1%) in the 1000 Genome Project, or identify subset of non-synonymous SNPs with SIFT score>0.05...
In a modern desktop computer (3GHz Intel Xeon CPU, 8Gb memory), for 4.7 million variants, ANNOVAR requires ~4 minutes to perform gene-based functional annotation, or ~15 minutes to perform stepwise "variants reduction" procedure, making it practical to handle hundreds of human genomes in a day.
Links
References
To add a reference for ANNOVAR, enter the PubMed ID in the field below and click 'Add'.
Search for "ANNOVAR" in the SEQanswers forum / BioStar or:
| Web Search | Wiki Sites | Scientific |
|---|---|---|
