Bioinformatics tools for single nucleotide polymorphism discovery and analysis

Robert J. Clifford, Michael N. Edmonson, Cu Nguyen, Titia Scherpbier, Ying Hu, Kenneth H. Buetow

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Single nucleotide polymorphisms (SNPs) are a valuable resource for investigating the genetic basis of disease. These variants can serve as markers for fine-scale genetic mapping experiments and genome-wide association studies. Certain of these nucleotide polymorphisms may predispose individuals to illnesses such as diabetes, hypertension, or cancer, or affect disease progression. Bioinformatics techniques can play an important role in SNP discovery and analysis. We use computational methods to identify SNPs and to predict whether they are likely to be neutral or deleterious. We also use informatics to annotate genes that contain SNPs. To make this information available to the research community, we provide a variety of Internet-accessible tools for data access and display. These tools allow researchers to retrieve data about SNPs based on gene of interest, genetic or physical map location, or expression pattern.

Original languageEnglish (US)
Pages (from-to)101-109
Number of pages9
JournalAnnals of the New York Academy of Sciences
StatePublished - 2004
Externally publishedYes


  • Bioinformatics
  • SNPs
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science


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