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PMID: 12490454 Published · ppublish English Journal Article Research Support, U.S. Gov't, P.H.S.

SNPper: retrieval and analysis of human SNPs.

Bioinformatics (Oxford, England) ·Vol. 18 ·No. 12 ·2002-12-00 ·Pages 1681-5

Riva A, Kohane IS

Abstract

Single Nucleotide Polymorphisms (SNPs) are an increasingly important tool for the study of the human genome. SNPs can be used as markers to create high-density genetic maps, as causal candidates for diseases, or to reconstruct the history of our genome. SNP-based studies rely on the availability of large numbers of validated, high-frequency SNPs whose position on the chromosomes is known with precision. Although large collections of SNPs exist in public databases, researchers need tools to effectively retrieve and manipulate them. We describe the implementation and usage of SNPper, a web-based application to automate the tasks of extracting SNPs from public databases, analyzing them and exporting them in formats suitable for subsequent use. Our application is oriented toward the needs of candidate-gene, whole-genome and fine-mapping studies, and provides several flexible ways to present and export the data. The application has been publicly available for over a year, and has received positive user feedback and high usage levels.

MeSH Terms
Database Management Systems Databases, Nucleic Acid Genetic Variation Genetics, Population Genome, Human Humans Information Storage and Retrieval/methods Internet Polymorphism, Single Nucleotide Sequence Alignment/methods Sequence Analysis, DNA/methods Software User-Computer Interface
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Riva A
Children's Hospital Informatics Program, Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA 02115, USA. Alberto.Riva@TCH.Harvard.edu
Kohane I S
Article Info
Journal
Bioinformatics (Oxford, England)
Abbr.
Bioinformatics
ISSN
1367-4803
Published
2002-12-00
Pages
1681-5
Language
English
Region
England
NLM ID
9808944
Subset
IM
Grants
NHLBI NIH HHS · U01-HL66795 · United States
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