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 a...

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Detalles Bibliográficos
Autores principales: Küntzer, Jan, Eggle, Daniela, Klostermann, Stefan, Burtscher, Helmut
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2911800/
https://www.ncbi.nlm.nih.gov/pubmed/20639550
http://dx.doi.org/10.1093/database/baq015
Descripción
Sumario: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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