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A SNP-centric database for the investigation of the human genome

BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. Although current genomic databases contain information on several million SNPs and are growing at a very fast rate, the true value of a SNP in this context is a function of the...

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Autores principales: Riva, Alberto, Kohane, Isaac S
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC395999/
https://www.ncbi.nlm.nih.gov/pubmed/15046636
http://dx.doi.org/10.1186/1471-2105-5-33
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author Riva, Alberto
Kohane, Isaac S
author_facet Riva, Alberto
Kohane, Isaac S
author_sort Riva, Alberto
collection PubMed
description BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. Although current genomic databases contain information on several million SNPs and are growing at a very fast rate, the true value of a SNP in this context is a function of the quality of the annotations that characterize it. Retrieving and analyzing such data for a large number of SNPs often represents a major bottleneck in the design of large-scale association studies. DESCRIPTION: SNPper is a web-based application designed to facilitate the retrieval and use of human SNPs for high-throughput research purposes. It provides a rich local database generated by combining SNP data with the Human Genome sequence and with several other data sources, and offers the user a variety of querying, visualization and data export tools. In this paper we describe the structure and organization of the SNPper database, we review the available data export and visualization options, and we describe how the architecture of SNPper and its specialized data structures support high-volume SNP analysis. CONCLUSIONS: The rich annotation database and the powerful data manipulation and presentation facilities it offers make SNPper a very useful online resource for SNP research. Its success proves the great need for integrated and interoperable resources in the field of computational biology, and shows how such systems may play a critical role in supporting the large-scale computational analysis of our genome.
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spelling pubmed-3959992004-04-27 A SNP-centric database for the investigation of the human genome Riva, Alberto Kohane, Isaac S BMC Bioinformatics Database BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for genetic and biomedical research. Although current genomic databases contain information on several million SNPs and are growing at a very fast rate, the true value of a SNP in this context is a function of the quality of the annotations that characterize it. Retrieving and analyzing such data for a large number of SNPs often represents a major bottleneck in the design of large-scale association studies. DESCRIPTION: SNPper is a web-based application designed to facilitate the retrieval and use of human SNPs for high-throughput research purposes. It provides a rich local database generated by combining SNP data with the Human Genome sequence and with several other data sources, and offers the user a variety of querying, visualization and data export tools. In this paper we describe the structure and organization of the SNPper database, we review the available data export and visualization options, and we describe how the architecture of SNPper and its specialized data structures support high-volume SNP analysis. CONCLUSIONS: The rich annotation database and the powerful data manipulation and presentation facilities it offers make SNPper a very useful online resource for SNP research. Its success proves the great need for integrated and interoperable resources in the field of computational biology, and shows how such systems may play a critical role in supporting the large-scale computational analysis of our genome. BioMed Central 2004-03-26 /pmc/articles/PMC395999/ /pubmed/15046636 http://dx.doi.org/10.1186/1471-2105-5-33 Text en Copyright © 2004 Riva and Kohane; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.
spellingShingle Database
Riva, Alberto
Kohane, Isaac S
A SNP-centric database for the investigation of the human genome
title A SNP-centric database for the investigation of the human genome
title_full A SNP-centric database for the investigation of the human genome
title_fullStr A SNP-centric database for the investigation of the human genome
title_full_unstemmed A SNP-centric database for the investigation of the human genome
title_short A SNP-centric database for the investigation of the human genome
title_sort snp-centric database for the investigation of the human genome
topic Database
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC395999/
https://www.ncbi.nlm.nih.gov/pubmed/15046636
http://dx.doi.org/10.1186/1471-2105-5-33
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