Research Unit in Bioinformatics (RUBi), Department of Biochemistry and Microbiology, Rhodes University, Grahamstown, South Africa.
Hum Mutat. 2018 Jan;39(1):40-51. doi: 10.1002/humu.23334. Epub 2017 Oct 17.
The completion of the human genome project at the beginning of the 21st century, along with the rapid advancement of sequencing technologies thereafter, has resulted in exponential growth of biological data. In genetics, this has given rise to numerous variation databases, created to store and annotate the ever-expanding dataset of known mutations. Usually, these databases focus on variation at the sequence level. Few databases focus on the analysis of variation at the 3D level, that is, mapping, visualizing, and determining the effects of variation in protein structures. Additionally, these Web servers seldom incorporate tools to help analyze these data. Here, we present the Human Mutation Analysis (HUMA) Web server and database. HUMA integrates sequence, structure, variation, and disease data into a single, connected database. A user-friendly interface provides click-based data access and visualization, whereas a RESTful Web API provides programmatic access to the data. Tools have been integrated into HUMA to allow initial analyses to be carried out on the server. Furthermore, users can upload their private variation datasets, which are automatically mapped to public data and can be analyzed using the integrated tools. HUMA is freely accessible at https://huma.rubi.ru.ac.za.
21 世纪初人类基因组计划的完成，以及随后测序技术的快速发展，导致了生物数据的指数级增长。在遗传学中，这产生了许多变异数据库，用于存储和注释不断扩展的已知突变数据集。通常，这些数据库侧重于序列水平的变异。很少有数据库专注于分析 3D 水平的变异，即映射、可视化和确定蛋白质结构变异的影响。此外，这些 Web 服务器很少包含帮助分析这些数据的工具。在这里，我们介绍了人类突变分析（HUMA）Web 服务器和数据库。HUMA 将序列、结构、变异和疾病数据集成到一个单一的、连接的数据库中。用户友好的界面提供基于点击的数据访问和可视化，而 RESTful Web API 则提供对数据的编程访问。已经在 HUMA 中集成了工具，允许在服务器上进行初始分析。此外，用户可以上传他们的私人变异数据集，这些数据集将自动映射到公共数据，并可以使用集成的工具进行分析。HUMA 可在 https://huma.rubi.ru.ac.za 免费访问。
