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SNP and Mutation Data on the Web – Hidden Treasures for Uncovering

机译:Web上的SNP和变异数据–发现隐患

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SNP data has grown exponentially over the last two years, SNP database evolution hasmatched this growth, as initial development of several independent SNP databases hasgiven way to one central SNP database, dbSNP. Other SNP databases have insteadevolved to complement this central database by providing gene specific focus and anincreased level of curation and analysis on subsets of data, derived from the central dataset. By contrast, human mutation data, which has been collected over many years, is stillstored in disparate sources, although moves are afoot to move to a similar centraldatabase. These developments are timely, human mutation and polymorphism data bothhold complementary keys to a better understanding of how genes function and malfunctionin disease. The impending availability of a complete human genome presents us with anideal framework to integrate both these forms of data, as our understanding of themechanisms of disease increase, the full genomic context of variation may becomeincreasingly significant.
机译:在过去的两年中,SNP数据呈指数增长,SNP数据库的发展已与这种增长相匹配,因为几个独立的SNP数据库的初步开发已向一个中央SNP数据库dbSNP过渡。相反,其他SNP数据库通过提供特定于基因的焦点以及对源自中央数据集的数据子集的管理和分析水平的提高,已经发展成为该中央数据库的补充。相比之下,已经收集了多年的人类突变数据仍存储在不同的来源中,尽管人们正朝着类似的中央数据库迁移。这些发展是及时的,人类突变和多态性数据拥有互补的关键,可以更好地了解基因如何发挥作用以及在疾病中的功能失常。完整人类基因组的迫切需求为我们提供了一个整合这两种数据形式的理想框架,因为随着我们对疾病机理的理解的增加,变异的完整基因组背景可能会变得越来越重要。

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