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Bioinformatics Tools for Single Nucleotide Polymorphism Discovery and Analysis
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
Address for correspondence: Robert J. Clifford; NCI/CCR/LPG, MSC8302, 8424 Helgerman Court, Bethesda, MD 20892. Voice: 301-435-1527; fax: 301-402-9325. clifforr{at}mail.nih.gov Ann. N.Y. Acad. Sci. 1020: 101-109 (2004).
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.
Key Words: bioinformatics • single nucleotide polymorphisms • SNPs This article has been cited by other articles:
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