Mutalyzer 2: next generation HGVS nomenclature checker | Zendy

Mihai Lefter | Zendy; Jonathan K. Vis | Zendy; Martijn Vermaat | Zendy; Johan T. den Dunnen | Zendy; Peter E.M. Taschner | Zendy; Jeroen F. J. Laros | Zendy

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Mutalyzer 2: next generation HGVS nomenclature checker

Author(s) -

Mihai Lefter,

Jonathan K. Vis,

Martijn Vermaat,

Johan T. den Dunnen,

Peter E.M. Taschner,

Jeroen F. J. Laros

Publication year - 2021

Publication title -

bioinformatics

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btab051

Subject(s) - computer science , license , set (abstract data type) , suite , source code , code (set theory) , variation (astronomy) , mit license , programming language , artificial intelligence , operating system , physics , archaeology , astrophysics , history

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.

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