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Mutalyzer 2: next generation HGVS nomenclature checker.

Bioinformatics (Oxford, England) - 29 Sept 2021

Lefter Mihai, Vis Jonathan K, Vermaat Martijn, den Dunnen Johan T, Taschner Peter E M, Laros Jeroen F J

Abstract excerpt

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...

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PMID: 33538839
DOI: 10.1093/bioinformatics/btab051
PMCID: PMC8479679

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