GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

M.A. van Driel; K. Cuelenaere; P.P.C.W. Kemmeren; J.A.M. Leunissen; H.G. Brunner; G. Vriend

doi:10.1093/nar/gki435

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

M.A. van Driel, K. Cuelenaere, P.P.C.W. Kemmeren, J.A.M. Leunissen, H.G. Brunner, G. Vriend

Research output: Contribution to journal › Article › Academic › peer-review

77 Citations (Scopus)

Abstract

The identification of genes underlying human genetic disorders requires the combination of data related to cytogenetic localization, phenotypes and expression patterns, to generate a list of candidate genes. In the field of human genetics, it is normal to perform this combination analysis by hand. We report on GeneSeeker (http://www.cmbi.ru.nl/GeneSeeker/), a web server that gathers and combines data from a series of databases. All database searches are performed via the web interfaces provided with the original databases, guaranteeing that the most recent data are queried, and obviating data warehousing. GeneSeeker makes the same selection of candidate genes as the human geneticists would have performed, and thus reducing the time-consuming process to a few minutes. GeneSeeker is particularly well suited for syndromes in which the disease gene displays altered expression patterns in the affected tissue(s).

Original language	English
Pages (from-to)	w758-w761
Journal	Nucleic acids research
Volume	33
Issue number	SUPP/2
DOIs	https://doi.org/10.1093/nar/gki435
Publication status	Published - 2005

Keywords

candidate genes
expression database
genome database
disorders
identification
malformations
knowledgebase
map

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1093/nar/gki435

Cite this

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title = "GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases",

abstract = "The identification of genes underlying human genetic disorders requires the combination of data related to cytogenetic localization, phenotypes and expression patterns, to generate a list of candidate genes. In the field of human genetics, it is normal to perform this combination analysis by hand. We report on GeneSeeker (http://www.cmbi.ru.nl/GeneSeeker/), a web server that gathers and combines data from a series of databases. All database searches are performed via the web interfaces provided with the original databases, guaranteeing that the most recent data are queried, and obviating data warehousing. GeneSeeker makes the same selection of candidate genes as the human geneticists would have performed, and thus reducing the time-consuming process to a few minutes. GeneSeeker is particularly well suited for syndromes in which the disease gene displays altered expression patterns in the affected tissue(s).",

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AU - van Driel, M.A.

AU - Cuelenaere, K.

AU - Kemmeren, P.P.C.W.

AU - Leunissen, J.A.M.

AU - Brunner, H.G.

AU - Vriend, G.

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KW - candidate genes

KW - expression database

KW - genome database

KW - disorders

KW - identification

KW - malformations

KW - knowledgebase

KW - map

U2 - 10.1093/nar/gki435

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JO - Nucleic acids research

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IS - SUPP/2

ER -

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

Abstract

Keywords

UN SDGs

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