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PMID: 15046636 Published · epublish English Journal Article Research Support, U.S. Gov't, P.H.S. Review

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

BMC bioinformatics ·Vol. 5 ·2004-03-26 ·Pages 33

Riva A, Kohane IS

Abstract

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. 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. 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.

MeSH Terms
Databases, Genetic/trends Genome, Human Genomics/trends Humans Internet/trends Polymorphism, Single Nucleotide/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Riva Alberto
Children's Hospital Informatics Program, Children's Hospital Boston, 320 Longwood, Avenue, Boston, MA 02115, USA. [email protected]
Kohane Isaac S
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11 references, click to expand
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Article Info
Journal
BMC bioinformatics
Abbr.
BMC Bioinformatics
ISSN
1471-2105
Published
2004-03-26
Epub
2004-00-26
Pages
33
Language
English
Region
England
NLM ID
100965194
PMCID
PMC395999
Subset
IM
Grants
NHLBI NIH HHS · U01 HL066795 · United States
NHLBI NIH HHS · U01-HL66795 · United States
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