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Human variation databases
Author(s) -
Jan Küntzer,
Daniela Eggle,
Stefan Klostermann,
Helmut Burtscher
Publication year - 2010
Publication title -
database
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.406
H-Index - 62
ISSN - 1758-0463
DOI - 10.1093/database/baq015
Subject(s) - variation (astronomy) , database , computer science , information retrieval , world wide web , astrophysics , physics
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.

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