Human variation databases.
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.
Küntzer
Jan
J
Pharma Research and Early Development, pRED Informatics, Roche Diagnostics GmbH, Penzberg, Germany. jan.kuentzer@roche.com
Eggle
Daniela
D
Klostermann
Stefan
S
Burtscher
Helmut
H
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