Department of Medical Bioinformatics, University Medical Center Göttingen, Goldschmidtstr. 1, 37077 Göttingen, Germany.
Göttingen Comprehensive Cancer Center (G-CCC), 37075 Göttingen, Germany.
Nucleic Acids Res. 2024 Jul 5;52(W1):W116-W120. doi: 10.1093/nar/gkae422.
Dealing with sequence coordinates in different formats and reference genomes is challenging in genetic research. This complexity arises from the need to convert and harmonize datasets of different sources using alternating nomenclatures. Since manual processing is time-consuming and requires specialized knowledge, the Sequence Conversion and Analysis Toolbox (SeqCAT) was developed for daily work with genetic datasets. Our tool provides a range of functions designed to standardize and convert gene variant coordinates based on various sequence types. Its user-friendly web interface provides easy access to all functionalities, while the Application Programming Interface (API) enables automation within pipelines. SeqCAT provides access to human genomic, protein and transcript data, utilizing various data resources and packages and extending them with its own unique features. The platform covers a wide range of genetic research needs with its 14 different applications and 3 info points, including search for transcript and gene information, transition between reference genomes, variant mapping, and genetic event review. Notable examples are 'Convert Protein to DNA Position' for translation of amino acid changes into genomic single nucleotide variants, or 'Fusion Check' for frameshift determination in gene fusions. SeqCAT is an excellent resource for converting sequence coordinate data into the required formats and is available at: https://mtb.bioinf.med.uni-goettingen.de/SeqCAT/.
在遗传研究中,处理不同格式和参考基因组的序列坐标是具有挑战性的。这种复杂性源于需要使用交替命名法转换和协调来自不同来源的数据集。由于手动处理既耗时又需要专业知识,因此开发了序列转换和分析工具箱(SeqCAT)以用于日常处理遗传数据集。我们的工具提供了一系列功能,旨在根据各种序列类型标准化和转换基因变异坐标。其用户友好的网络界面提供了对所有功能的轻松访问,而应用程序编程接口(API)则可以在管道内实现自动化。SeqCAT 提供了对人类基因组、蛋白质和转录数据的访问,利用各种数据资源和软件包,并通过其独特的功能进行扩展。该平台涵盖了广泛的遗传研究需求,有 14 个不同的应用程序和 3 个信息点,包括转录本和基因信息的搜索、参考基因组之间的转换、变异映射和遗传事件审查。值得注意的例子是“将蛋白质转换为 DNA 位置”,用于将氨基酸变化转换为基因组单核苷酸变异,或“融合检查”,用于确定基因融合中的移码。SeqCAT 是将序列坐标数据转换为所需格式的优秀资源,可在以下网址获得:https://mtb.bioinf.med.uni-goettingen.de/SeqCAT/。