Guidelines and recommendations for content, structure, and deployment of mutation databases

These Guidelines recognize the need for annotated online mutation databases documenting allelic variation (both pathogenic and phenotype modifying, an d also neutral polymorphic); the data bases will be both generalized (genom ic) and specialized (locus specific), and a seamless integration of the two types is intended. Each requires a Document (its "biography"), Different m utation databases will have different content and structure, but a minimum core of content in a shared syntax is a necessity; the core includes: (1) a unique identifier of the allele; (2) the source/report of the data; (3) co ntext of the allele; and (4) the allele itself (the description). The allel e description should be validated. There is no single correct way to design a mutation database. The uses to which databases are put dictate the desig n, Software and deployment together recognize the different needs of specia lized and generalized databases, while making them mutually compatible thro ugh shared content and the appropriate search facilities. A set of eight Re commendations completes these Guidelines for Content, Design, and Deploymen t of Mutation Databases. Hum Mutat 13:344-350, 1999. (C) 1999 Wiley-Liss, I nc.