Mutalyzer 2: Next Generation HGVS Nomenclature Checker
| Autor: | Johan T. den Dunnen, Martijn Vermaat, Jonathan K. Vis, Mihai Lefter, Jeroen F.J. Laros, Peter E.M. Taschner |
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| Rok vydání: | 2020 |
| Předmět: |
Statistics and Probability
Source code Genetic Databases Programming language Computer science business.industry media_common.quotation_subject computer.software_genre Biochemistry Computer Science Applications Set (abstract data type) Computational Mathematics Computational Theory and Mathematics Mutalyzer Clinical genetic Human genome Artificial intelligence business Molecular Biology Nomenclature computer Natural language processing media_common |
| Zdroj: | Bioinformatics, 37(18), 2811-2817. OXFORD UNIV PRESS |
| DOI: | 10.1101/2020.06.24.168583 |
| Popis: | 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 ∼50% of cases. In 41% of the cases either a syntactic or semantic error was identified and for ∼7% of cases, Mutalyzer was able to automatically correct the description. Availability and implementation Mutalyzer is an Open Source project under the GNU Affero General Public License. The source code is available on GitHub (https://github.com/mutalyzer/mutalyzer) and a running instance is available at: https://mutalyzer.nl |
| Databáze: | OpenAIRE |
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