ANNOVAR
Rapidly and efficiently annotate genetic variants from high-throughput sequencing data and predict their functionalities
Annotate a whole genome in under 4 minutes
ANNOVAR is a fast and flexible Perl command line program that enables high-throughput functional annotation and filtering of genetic variants from next-generation sequencing (NGS) data. ANNOVAR allows researchers to annotate a whole genome in under 4 minutes and can handle hundreds of genomes per day on a standard desktop PC.
Simplify variant annotation and prioritization with ANNOVAR
Enhance your existing pipeline to filter and annotate variants from whole genome and exome sequencing.
Easily configure the annotation pipeline to fit your needs without requiring programming experience.
Instantly retrieve up-to-date information from both public and proprietary annotation sources and databases.
“ANNOVAR is widely used in clinical genome-sequencing studies. On the basis of the 2014 CLARITY report, 52% of the clinical genome sequencing laboratories and 63% of the finalists used ANNOVAR to find disease-related mutations.”
Yang & Wang (2015)
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR, Nature Protocols
ANNOVAR supports three different types of annotations
- Gene-based annotation – what is the variant’s functional impact on known genes
- Region-based annotation – what is the variant’s relationship with different specific genomic regions
- Filter-based annotation – gives a variety of information on the variant, such as population frequency and types of variant-deleteriousness prediction scores
Use wANNOVAR for web-based access
To facilitate convenient and fast access to ANNOVAR for researchers who prefer a graphical user interface, wANNOVAR provides web-based access to the most commonly used functionalities of ANNOVAR for human genomes.
By visiting the wANNOVAR website, users can directly upload their variant files and obtain their results back via web interface.
In addition, wANNOVAR implements phenotype-based variant prioritization, which is helpful in scenarios in which a sample’s specific phenotype or disease information is available and may help identify causal variants.
Start your trial of ANNOVAR today
Related clinical genome-sequencing solutions
QCI Interpret
Expand your clinical interpretation with expert-curated software for variant classification of any assay, covering any indication, on your sequencing platform
Human Gene Mutation Database
Solve more cases faster, with data you can trust using HGMD Professional, the de facto standard resource for identifying inherited disease-causing mutations
Clinical Analysis and Interpretation Services
Leverage the benefits of automation and expert support to improve test turnaround times and clinical reporting capabilities