VariantValidator: Accurate validation, mapping and formatting of sequence variation descriptions
Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R. Human Mutation. 2018;39:61–68.
All code is available online at https://github.com/openvar
- Contributing, bug reports and feature requests
If you would like to contribute to the development and maintenance of VariantValidator, please contact us
directly at firstname.lastname@example.org. If you would like to
request a new feature or have spotted an error, please
raise an issue,
or if you do not have a GitHub account, please email us
or contact us via our web form.
We use a simple cookie to improve your browsing experience. The cookie saves your preferences for each
VariantValidator contains hyperlinks to websites owned and operated by third parties. We do not accept
any responsibility or liability for the privacy practices of such third-party websites and your use of
such websites is at your own risk
- Why we ask you to create an account
VariantValidator is an Open Source project exclusively funded by grant income and generous contributions from
the University of Manchester (UK) and the University of Leicester (UK). In order to apply for external funding
and to retain funding from our host institutions we must demonstrate the wider impact of our software throughout
the global genomics community. By providing us with some basic information, you are helping us to demonstrate
the need for the software and will help us to build a convincing case which will enable the continued
maintenance and future development of this community driven resource.
- Your data
We will not share any personal data with external organisations. We may use data that you have submitted to
build a profile of our users. However, any such profiles will not include any identifiable data e.g. user names
or email addresses.
- Why do I need to provide an email address
We require an email address to validate your account, i.e. to ensure that the requested account has
originated from a genuine email address. Our batch services require an email address so that data can be
returned to you, therefore by creating and verifying your account, we can ensure that your data will only ever
be returned to you. We will only contact you directly if we receive a direct query from you, or via automated
responses generated by our batch tools. For any further information or to ask for additional information,
please contact us on email@example.com or via our
Terms and Conditions
The University of Leicester has developed the VariantValidator web site to provide accurate validation,
mapping and formatting of sequence variants using HGVS nomenclature
All contents of VariantValidator are protected by local and international copyright laws.
User inputs are submitted for the purpose of interpreting genetic and clinical information
(including clinical genomic and genetic data). Outputs returned may or may not have a causal association
with disease phenotypes, irrespective of stated classifications or other information presented by
VariantValidator. All information returned by VariantValidator, including variant classifications, is
subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or
fitness for a particular purpose. Use of VariantValidator and information is subject to User
responsibility and discretion. Clinical decisions regarding individual patient care should be carried
out in conjunction with a healthcare professional with expertise in the relevant genes and diseases.
We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the
information provided by VariantValidator.
By continuing to use VariantValidator, you accept the following terms:
- Secure/Remote Access.
All access and use of VariantValidator must be made via a secure network.
- Variations in Content.
The University of Leicester shall have the right, in its reasonable
and good faith discretion, to remove or modify materials accessed by VariantValidator or outputs
provided by VariantValidator because such materials contain errors or could be subject to an
infringement or other adverse claim by a third party.
- Remedial Action.
Without limiting the above, University may suspend delivery of the Service if it reasonably
determines a User’s failure to comply with this Agreement may cause irreparable harm to it.
- Service Level.
University will use reasonable efforts to provide access to the Service on a continuous 24/7 basis
(except for regularly scheduled maintenance when Service may be suspended) and free from viruses or
other harmful software. University shall not be liable for any failure or delay or interruption in
the Service or failure of any equipment or telecommunications resulting from any cause beyond
University’s reasonable control. User is responsible for providing all required information.
- No Warranty.
University makes no warranty that Service is error free or that the use thereof will be uninterrupted
and User acknowledges and agrees that the existence of such errors shall not constitute a breach of
this Agreement. University disclaims all other warranties with respect to Service, either express or
implied, including but not limited to any implied warranties relating to quality, fitness for any
particular purpose or ability to achieve a particular result. Limitation of Liability. University’s
total liability for any claims, losses, damages or expenses whatsoever and howsoever caused
(even if caused by University’s negligence and/or breach of contract) shall be limited to the price
paid to University for the products or services that are the subject of the User’s claim.