HUMA: A platform for the analysis of genetic variation in humans

作     者：Brown, David K. Bishop, Ozlem Tastan 

作者机构：Rhodes Univ Res Unit Bioinformat RUBi Dept Biochem & Microbiol ZA-6140 Grahamstown South Africa 

出 版 物：《HUMAN MUTATION》 (人类突变)

年 卷 期：2018年第39卷第1期

页      面：40-51页

核心收录：

学科分类：0710[理学-生物学] 071010[理学-生物化学与分子生物学] 07[理学] 

基　　金：National Institutes of Health Common Fund [U41HG006941] 

主　　题：downstream variant analysis HUMA protein variants structural bioinformatics SNP variation database 

摘      要：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 .