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MutationTaster2021

Steinhaus, Robin, Proft, Sebastian, Schuelke, Markus, Cooper, David N., Schwarz, Jana Marie and Seelow, Dominik 2021. MutationTaster2021. Nucleic Acids Research 49 (W1) , W446–W451. 10.1093/nar/gkab266

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Abstract

Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version uses a different prediction model and attains higher accuracy than its predecessor, especially for rare benign variants. In addition, we have integrated many sources of data that only became available after the last release (such as gnomAD and ExAC pLI scores) and changed the splice site prediction model. To more easily assess the relevance of detected known disease mutations to the clinical phenotype of the patient, MutationTaster now provides information on the diseases they cause. Further changes represent a major overhaul of the interfaces to increase user-friendliness whilst many changes under the hood have been designed to accelerate the processing of uploaded VCF files. We also offer an API for the rapid automated query of smaller numbers of variants from within other software. MutationTaster2021 integrates our disease mutation search engine, MutationDistiller, to prioritise variants from VCF files using the patient's clinical phenotype. The novel version is available at https://www.genecascade.org/MutationTaster2021/. This website is free and open to all users and there is no login requirement.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Additional Information: This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/)
Publisher: Oxford University Press
ISSN: 0305-1048
Date of First Compliant Deposit: 27 August 2021
Date of Acceptance: 1 April 2021
Last Modified: 31 Aug 2021 11:00
URI: http://orca.cardiff.ac.uk/id/eprint/143727

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