Article

Mutalyzer 2: Next Generation HGVS Nomenclature Checker

2020-06-24

Abstract excerpt

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...

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Literature Corpus work: eef72ffa-301d-5497-9aa4-ec148ad224e5
DOI: 10.1101/2020.06.24.168583

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