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Guidelines and recommendations for content, structure, and deployment of mutation databases
Author(s) -
Scriver C.R.,
Nowacki P.M.,
Lehväslaiho H.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<344::aid-humu2>3.0.co;2-u
Subject(s) - database , biology , context (archaeology) , locus (genetics) , allele , identifier , software deployment , genetics , online database , computer science , information retrieval , programming language , gene , software engineering , paleontology
These Guidelines recognize the need for annotated online mutation databases documenting allelic variation (both pathogenic and phenotype modifying, and also neutral polymorphic); the databases will be both generalized (genomic) and specialized (locus specific), and a seamless integration of the two types is intended. Each requires a Document (its “biography”). Different mutation 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) context of the allele; and (4) the allele itself (the description). The allele description should be validated. There is no single correct way to design a mutation database. The uses to which databases are put dictate the design. Software and deployment together recognize the different needs of specialized and generalized databases, while making them mutually compatible through shared content and the appropriate search facilities. A set of eight Recommendations completes these Guidelines for Content, Design, and Deployment of Mutation Databases. Hum Mutat 13:344–350, 1999. © 1999 Wiley‐Liss, Inc.

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