Erasmus MC, MGC-Department of Cell Biology and Genetics, Rotterdam, the Netherlands.
Hum Genomics. 2010 Jun;4(5):361-8. doi: 10.1186/1479-7364-4-5-361.
National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation.
国家和民族突变数据库(NEMDBs)是新兴的在线存储库,记录了有关特定族群或人群遗传异质性的广泛信息。这些资源促进了遗传服务的提供,并提供了不同人群之间基因组变异的综合清单。因此,它们提高了对各种遗传疾病的认识。在这里,我们描述了 ETHNOS 软件的特点,ETHNOS 是一个简单但功能强大的工具,基于平面文件数据库,专门用于开发和管理 NEMDB。ETHNOS 是一款免费软件,目前运行的 NEMDB 中有一半以上都是基于该软件。鉴于遗传检测服务中对 NEMDB 的新兴需求,以及 ETHNOS 是唯一可用的 NEMDB 开发和管理的现成软件,在随后的 NEMDB 开发中采用该软件将有助于实现数据内容的一致性,而不像现有基因(座)特异性数据库那样内容和质量多样化。最后,我们提到了 NEMDB 的潜在应用,不仅作为全球中心等位基因频率存储库,而且更重要的是,作为个体水平基因组数据的数据仓库,从而可以全面记录特定族群的基因组变异。