MutaDATABASE: a centralized and standardized DNA variation database

The field of molecular diagnostics for genetic disease is entering a new era of whole-genome sequencing. The unprecedented speed and scale with which human sequence variants are being identified is presenting the diagnostics community with practical logistical problems in retrieving, collecting, sharing and depositing clinical and molecular information on genetic disease. In response to this problem, a large consortium of diagnostic testing laboratories in Europe, the United States, Australia and Asia have recently joined efforts to create a central database that provides a repository of DNA variations and allows open access to the whole community. Here, we outline the main features of this universal database, referred to as MutaDATABASE ( Fig. 1 ; http://www.MutaDATABASE.org ). Figure 1: Organization and structure of MutaDATABASE. ( a ) As new variations are discovered in human genes, experts in the field ('MutaCURATORS') will collect and review all information from the literature and other gene databases, together with information entered by labs and clinicians ('MutaCLINICIANS'). Molecular and clinical information can be submitted into MutaDATABASE directly or through specifically designed 'MutaREPORTER' software, which allows users to circulate all information and questions in community groups centering around a given disease gene ('MutaCIRCLES'). Reviews ('MutaREVIEWS') on specific genes, their variants and associated phenotypes will be published online and will be freely available. ( b ) A screenshot of the MutaREPORTER software. Full size image