title: A web-based tool to retrieve human genome polymorphisms from public databases.
abstract: Single Nucleotide Polymorphisms (SNPs) are the most important source of variation in our genome, and an invaluable tool in the hands of researchers who investigate genetic diseases. Databases of SNPs are growing at a very fast rate, and the ability to perform large-scale, high-resolution association studies is quickly becoming a reality. In this paper we describe SNPper, a web-based tool to search for SNPs in public databases. The system allows searching for all SNPs in a given set of genes (for candidate gene studies) or in a specified region of a chromosome. The information displayed for each gene or each SNP is fully annotated and linked to the leading bioinformatics web sites. The first release of SNPper is available on the web, and has received positive feedback from the genetic and bioinformatics community.
authors.affiliation: Children's Hospital Informatics Program, Boston, MA, USA. Alberto.Riva@TCH.Harvard.edu
authors.forename: A
authors.initials: A
authors.lastname: Riva
authors.forename: I S
authors.initials: IS
authors.lastname: Kohane
mesh_terms: D030541:Databases, Genetic; D015894:Genome, Human; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods*; D020407:Internet; D020641:Polymorphism, Single Nucleotide