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
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author Küntzer, Jan
Eggle, Daniela
Klostermann, Stefan
Burtscher, Helmut
author_facet Küntzer, Jan
Eggle, Daniela
Klostermann, Stefan
Burtscher, Helmut
author_sort Küntzer, Jan
collection PubMed
description 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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spelling pubmed-29118002010-07-30 Human variation databases Küntzer, Jan Eggle, Daniela Klostermann, Stefan Burtscher, Helmut Database (Oxford) Review 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. Oxford University Press 2010-07-17 /pmc/articles/PMC2911800/ /pubmed/20639550 http://dx.doi.org/10.1093/database/baq015 Text en © The Author(s) 2010. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/2.5 This is Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Küntzer, Jan
Eggle, Daniela
Klostermann, Stefan
Burtscher, Helmut
Human variation databases
title Human variation databases
title_full Human variation databases
title_fullStr Human variation databases
title_full_unstemmed Human variation databases
title_short Human variation databases
title_sort human variation databases
topic Review
url 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
work_keys_str_mv AT kuntzerjan humanvariationdatabases
AT eggledaniela humanvariationdatabases
AT klostermannstefan humanvariationdatabases
AT burtscherhelmut humanvariationdatabases

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