Mutalyzer 2: next generation HGVS nomenclature checker

Author(s):
Lefter, M.; Vis, J.K.; Vermaat, M.; Dunnen, J.T. den (0000-0002-6304-1710); Taschner, P.E.M.; Laros, J.F.J.
Published
2021
Publication type
Article / Letter to editor

Abstract

Motivation: 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 variant descriptions.Results: 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 similar to 50% of cases. In 41% of the cases either a syntactic or semantic error was identified and for similar to 7% of cases, Mutalyzer was able to automatically correct the description.

Date issued
2021-09-15
Language
English
Publisher
OXFORD UNIV PRESS
Is part of
Bioinformatics (2021), Vol. 37, no. 18, p. 2811-2817
hdl
1887/3256617
doi
10.1093/bioinformatics/btab051
URL
https://academic.oup.com/bioinformatics/advance-article-pdf/doi/10.1093/bioinformatics/btab051/36194258/btab051.pdf