title: Bioinformatics tools for single nucleotide polymorphism discovery and analysis.
abstract: 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.
authors.affiliation: Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. clifforr@mail.nih.gov
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Clifford
authors.forename: Michael N
authors.initials: MN
authors.lastname: Edmonson
authors.forename: Cu
authors.initials: C
authors.lastname: Nguyen
authors.forename: Titia
authors.initials: T
authors.lastname: Scherpbier
authors.forename: Ying
authors.initials: Y
authors.lastname: Hu
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Buetow
mesh_terms: D002874:Chromosome Mapping; D019295:Computational Biology / Q000379:methods*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009369:Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D014158:Transcription, Genetic
chemical_list: D012333:RNA, Messenger