1. Begin
  2. Phenotype Selection
  3. Gene Input
  4. Review Annotations
  5. Results

OVA: Ontology Variant Analysis Tool


Current high-throughput sequencing methods used for disease gene discovery or clinical diagnostics can generate very large volumes of data. While the extraction of non-synonymous, potentially deleterious variants can be easily automated, this often results in the identification of thousands of candidate disease genes. Since the experimental verification of an individual gene can be both difficult and time consuming, some method to prioritise the order in which such verification is sought is often employed.

Ontology Variant Analysis Tool is an online variant filtering and prioritisation application. Ontology Variant Analysis Tool can filter your VCF files on a wide array of criteria. Remaining genes are prioritisated based on their functional and phenotypic profile similarity to a user supplied phenotype.


Ontology Variant Analysis Tool is a single page application. Please use the buttons provided on the page to navigate instead of using your browser's 'Back' and 'Foward' buttons. Ontology Variant Analysis Tool requires JavaScript to function. If you are unable to proceed past this page, check your browser has JavaScript enabled. Finally, the website is best viewed on modern browsers as we cannot guarantee correct functionality on legacy browsers.

If this is your first time using our website, we recommend viewing a demonstration which will walk you through a common usage scenario. This can be accessed by clicking 'Start Website DEMO' button at the top of this page (temporarily unavailable due to technical issues). Alternatively, begin using Ontology Variant Analysis Tool by clicking 'Start Prioritisation' at the top of the page.


If you have any questions, comments or suggestions, please send an email to :