wANNOVAR (web ANNOVAR) is a web application for annotating genetic variants with respect to disease phenotypes.

 

Introduction

wANNOVAR was developed to provide an easy-to-use interface for biologists to annotate and analyze genetic variants data from whole-genome or whole-exome sequencing studies. It takes a VCF file, and optionally a control VCF file, a list of phenotype terms and hypothetical disease model, to annotate and prioritize a list of variants likely to be causal for specific disease phenotypes.

Features

We developed a web interface to the ANNOVAR software (wANNOVAR), so that an average biologist who do not want to download and install ANNOVAR software tools can easily submit a list of mutations (even whole-genome variants calls) to the web server, select the desired annotation categories, and receive functional annotation back by emails. The ANNOVAR server keeps on updating with the latest ANNOVAR version as well as the existing resources, so users can always keep up with the recent development without installing, maintaining or integrating these resources.

One additional feature of the wANNOVAR server is the ability to identify disease genes based on user-specified disease models: rare recessive Mendelian disease, rare dominant Mendelian disease, X-linked.

Finally, wANNOVAR integrates the Phenolyzer server so that users can input a list of disease or phenotype terms, to help prioritize disease genes with respect to observed phenotypes.

Availability

wANNOVAR is available from http://wannovar.usc.edu/

References

  • Chang X, Wang K. wANNOVAR: annotating genetic variants for personal genomes via the web. J Med Genet. 2012 Jun 20
  • Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research, 38:e164, 2010