Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

By M. Wildeman, Ernest van Ophuizen, J. D. den Dunnen, Peter E. M. Taschner. Human Mutation, 2008

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LOVD v.2.0: the next generation in gene variant databases (2011, methodology): “Mutalyzer nomenclature checker module—modifies the variant submission form to send the DNA change description and the reference sequence accession and version number to a remote server (http://www.mutalyzer.nl) running the new version 2 of the Mutalyzer software [Wildeman et al., 2008].”
Genetic variations and diseases in UniProtKB/Swiss-Prot: The ins and outs of expert manual curation (2014, neutral): “All geneticvariantstobecurated,beitneutralpolymorphisms,disease-associatedmutations,orunclassiﬁedvariants,arecontrolledwith theMutationAnalyzer(Mutalyzer)sequencevariationnomencla-turechecker[Wildemanetal.,2008],usingthereferencesequence citedbytheauthors.”
HGVS Recommendations for the Description of Sequence Variants: 2016 Update (2016, methodology): “These changes made it possible to generate a formalized description of the HGVS standard in Extended Backus-Naur Form [Laros et al., 2011] and to develop software tools that can check and/or generate HGVS descriptions [Wildeman et al., 2008; Hart et al., 2014].”
Predicting the Functional Effect of Amino Acid Substitutions and Indels (2012, neutral): “nl/) [31].”