Berliner Institut für Gesundheitsforschung in der Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.
Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, 13353 Berlin, Germany.
Nucleic Acids Res. 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266.
Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version uses a different prediction model and attains higher accuracy than its predecessor, especially for rare benign variants. In addition, we have integrated many sources of data that only became available after the last release (such as gnomAD and ExAC pLI scores) and changed the splice site prediction model. To more easily assess the relevance of detected known disease mutations to the clinical phenotype of the patient, MutationTaster now provides information on the diseases they cause. Further changes represent a major overhaul of the interfaces to increase user-friendliness whilst many changes under the hood have been designed to accelerate the processing of uploaded VCF files. We also offer an API for the rapid automated query of smaller numbers of variants from within other software. MutationTaster2021 integrates our disease mutation search engine, MutationDistiller, to prioritise variants from VCF files using the patient's clinical phenotype. The novel version is available at https://www.genecascade.org/MutationTaster2021/. This website is free and open to all users and there is no login requirement.
我们在此介绍MutationTaster 的更新版本，这是我们的 DNA 变异效应预测工具。新版本使用了不同的预测模型，比其前一个版本具有更高的准确性，尤其是对于罕见的良性变异。此外，我们还整合了许多在上一个版本发布后才可用的数据源（例如 gnomAD 和 ExAC pLI 分数），并改变了剪接位点预测模型。为了更轻松地评估检测到的已知疾病突变与患者临床表型的相关性，MutationTaster 现在提供了它们导致的疾病的信息。其他变化代表了界面的重大修改，旨在提高用户友好性，而许多底层的变化旨在加速上传的 VCF 文件的处理。我们还提供了一个 API，用于在其他软件内部快速自动查询少量变异。MutationTaster2021 集成了我们的疾病突变搜索引擎 MutationDistiller，以便使用患者的临床表型从 VCF 文件中优先考虑变异。新版本可在 https://www.genecascade.org/MutationTaster2021/ 获得。该网站对所有用户免费开放，无需登录。
