title: Human variation databases.
abstract: More than 100,000 human genetic variations have been described in various genes that are associated with a wide variety of diseases. Such data provides invaluable information for both clinical medicine and basic science. A number of locus-specific databases have been developed to exploit this huge amount of data. However, the scope, format and content of these databases differ strongly and as no standard for variation databases has yet been adopted, the way data is presented varies enormously. This review aims to give an overview of current resources for human variation data in public and commercial resources.
authors.affiliation: Pharma Research and Early Development, pRED Informatics, Roche Diagnostics GmbH, Penzberg, Germany. jan.kuentzer@roche.com
authors.forename: Jan
authors.initials: J
authors.lastname: Küntzer
authors.forename: Daniela
authors.initials: D
authors.lastname: Eggle
authors.forename: Stefan
authors.initials: S
authors.lastname: Klostermann
authors.forename: Helmut
authors.initials: H
authors.lastname: Burtscher
mesh_terms: D004252:DNA Mutational Analysis; D030541:Databases, Genetic / Q000592:standards; D004194:Disease / Q000235:genetics; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide