ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

In recent years, advances in our understanding of genotype-phenotype correlations and the evolution of genomics technology and nanotechnology have resulted in the generation of enormous amounts of genetic data. These data are usually stored in genetic databases, namely data repositories for genome variation data and their phenotypic consequences.Genetic databases can be categorised into three types: (1) General (core) mutation databases (GMDBs); (2) locus-specific databases (LSDBs) and (3) national and ethnic mutation databases (NEMDBs) [1]. GMDBs attempt to capture all described mutations in all genes, but with each being represented in only limited detail. By contrast, LSDBs are concerned with just one or a few specific genes, usually related to a single disease entity [2,3]. NEMDBs are repositories documenting the genetic composition of an ethnic group and/or population, and the genetic defects leading to various inherited disorders and their frequencies, calculated on a population-specific basis [4]. These resources have recently emerged, mostly driven by the need to document the varying mutation spectrum observed for any gene associated with a genetic disorder, among different population and ethnic or religious groups. In general, the NEMDBs available to date can be separated into two subcategories: (1) national genetic databases, which record the existing genetic composition of a population or ethnic group but with limited or no description of mutation frequencies, and (2) national mutation frequency databases, which provide comprehensive information only on inherited disorders whose disease-causing mutation spectrum is well defined [4].A detailed domain analysis of the various NEMDBs presently available has been previously performed [4]. Here, we provide an overview of the different functionalities of the ETHnic and National database Operating Software (ETHNOS) v2.0 software and comparatively describe the various national genetic databases that have resulted