Department of Human Genetics, Leiden University Medical Center (LUMC)Leiden, The Netherlands.
Department of Clinical Genetics, Leiden University Medical Center (LUMC)Leiden, The Netherlands.
Bioinformatics. 2021 Sep 29;37(18):2811-2817. doi: 10.1093/bioinformatics/btab051.
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.
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.
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.
在临床基因诊断、科学文献和基因数据库中，明确的变异描述至关重要。人类基因组变异协会（HGVS）发布了一套关于如何正确、明确地描述变异的综合指南。我们展示了 Mutalyzer 2 工具套件的实现，该套件旨在自动应用 HGVS 指南，使用户不必明确处理 HGVS 的复杂性来检查和纠正他们的变异描述。
自推出以来，Mutalyzer 已被社区广泛使用，处理了超过 1.33 亿个描述。在五年的时间里，Mutalyzer 在大约 50%的情况下报告了正确的输入。在 41%的情况下，发现了语法或语义错误，对于大约 7%的情况，Mutalyzer 能够自动纠正描述。
Mutalyzer 是一个遵循 GNU Affero 通用公共许可证的开源项目。源代码可在 GitHub（https://github.com/mutalyzer/mutalyzer）上获得，并且可以在以下网址访问运行实例：https://mutalyzer.nl。
