Mutalyzer 2: Next Generation HGVS Nomenclature Checker [article]

Mihai Lefter, Jonathan K. Vis, Martijn Vermaat, Johan T den Dunnen, Peter E.M. Taschner, Jeroen F.J. Laros
2020 bioRxiv   pre-print
Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature, and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants should be correctly and unambiguously described. We present the implementation of the Mutalyzer 2 tool suite, designed to automatically apply the HGVS guidelines so users do not have to deal with the HGVS intricacies explicitly to check and correct their
more » ... correct their variant descriptions. Mutalyzer is profusely used by the community, having processed over 133 million descriptions since its launch. Over a five year period, Mutalyzer reported a correct input in approximately 50% of cases. In 41% of the cases either a syntactic or semantic error was identified and for approximately 7% of cases, Mutalyzer was able to automatically correct the description.
doi:10.1101/2020.06.24.168583 fatcat:jtjmzl2unng3jp63cxc7uzmaeq