SNP and mutation data on the Web - hidden treasures for uncovering.

被引:3
作者
Barnes, MR [1 ]
机构
[1] GlaxoSmithKline Pharmaceut, Genet Bioinformat, Harlow CM19 5AW, Essex, England
来源
COMPARATIVE AND FUNCTIONAL GENOMICS | 2002年 / 3卷 / 01期
关键词
bioinformatics; genetics; human genome; SNP; mutation; databases;
D O I
10.1002/cfg.131
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
SNP data has grown exponentially over the last two years, SNP database evolution has matched this growth, as initial development of several independent SNP databases has given way to one central SNP database, dbSNP. Other SNP databases have instead evolved to complement this central database by providing gene specific focus and an increased level of curation and analysis on subsets of data, derived from the central data 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 ideal framework to integrate both these forms of data, as our understanding of the mechanisms of disease increase, the full genomic context of variation may become increasingly significant. Copyright (C) 2001 John Wiley Sons, Ltd.
引用
收藏
页码:67 / 74
页数:8
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