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Related Experiment Videos

A web-based tool to retrieve human genome polymorphisms from public databases.

A Riva1, I S Kohane

  • 1Children's Hospital Informatics Program, Boston, MA, USA. Alberto.Riva@TCH.Harvard.edu

Proceedings. AMIA Symposium
|February 5, 2002
PubMed
Summary
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SNPper is a new web tool for searching Single Nucleotide Polymorphisms (SNPs) in public databases. It aids researchers in genetic disease studies by enabling efficient searching of SNPs within genes or chromosomal regions.

Area of Science:

  • Genomics
  • Bioinformatics
  • Medical Genetics

Background:

  • Single Nucleotide Polymorphisms (SNPs) are crucial for understanding genomic variation and investigating genetic diseases.
  • The rapid expansion of SNP databases necessitates advanced tools for large-scale, high-resolution association studies.

Purpose of the Study:

  • To introduce SNPper, a novel web-based tool designed for efficient searching of Single Nucleotide Polymorphisms (SNPs) within public databases.
  • To provide researchers with a system for identifying SNPs in specific genes or chromosomal regions to facilitate genetic studies.

Main Methods:

  • Development of a web-based platform for SNP data retrieval.
  • Implementation of search functionalities for gene sets and chromosomal regions.
  • Integration of comprehensive annotations and links to leading bioinformatics resources.

Related Experiment Videos

Main Results:

  • SNPper enables targeted searches for SNPs across specified gene sets or chromosomal locations.
  • The tool provides fully annotated information for each gene and SNP.
  • All data is linked to relevant, authoritative bioinformatics websites for further research.

Conclusions:

  • SNPper offers a valuable resource for genetic and bioinformatics researchers.
  • The tool supports candidate gene studies and broader genomic association analyses.
  • Positive initial feedback indicates SNPper's utility in the scientific community.