snp and mutation data on the web – hidden treasures for uncoveringsnp和突变数据在网络上发现的宝藏.pdfVIP

Comparative and Functional Genomics Comp Funct Genom 2002; 3: 67–74. DOI: 10.1002 / cfg.131 Review SNP and mutation data on the Web – hidden treasures for uncovering. Michael R Barnes* Genetic Bioinformatics, GlaxoSmithKline Pharmaceuticals, New Frontiers Science Park (North), Third Avenue, Harlow, Essex CM19 5AW, UK *Correspondence to: Abstract Genetic Bioinformatics, GlaxoSmithKline Pharmaceuticals, SNP data has grown exponentially over the last two years, SNP database evolution has New Frontiers Science Park matched this growth, as initial development of several independent SNP databases has (North), Third Avenue, Harlow, given way to one central SNP database, dbSNP. Other SNP databases have instead Essex CM19 5AW, UK. evolved to complement this central database by providing gene specific focus and an E-mail: increased level of curation and analysis on subsets of data, derived from the central data Michael_R_Barnes@ set. By contrast, human mutation data, which has been collected over many years, is still stored in disparate sources, although moves are afoot to move to a similar central database. These developments are timely, human mutation and polymorphism data both hold complementary keys to a better understanding of how genes function and malfunction in disease. The impending availability of a complete human genome presents us with an Received: 1 November 2001 ideal framework to integrate both these forms of data, as our understanding of the Accepted: 21 November 2001 mechanisms of disease increase, the full genomic context of var