OSIRIS: a tool for retrieving literature about sequence variants
OSIRIS: a tool for retrieving literature about sequence variants
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DOI：
10.1093/bioinformatics/btl421
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发表时间：
2006-10-15
期刊：
影响因子：
5.8
通讯作者：
Sanz, Ferran
中科院分区：
文献类型：
--
作者：
Bonis, Julio;Furlong, Laura Ines;Sanz, Ferran
序列变异，特别是单核苷酸多态性（SNP），是鉴定与复杂疾病和特定药物反应相关的基因的关键要素。关于序列变异的文献搜索受到许多基因报道的大量等位基因变异以及基因和序列变异命名法的变异性的阻碍。我们描述了 OSIRIS，这是一种集成不同信息源的搜索工具，旨在检索有关基因序列变异的文献。此外，它还提供了一种将 dbSNP 条目与引用它的文章链接起来的方法。
Sequence variants, in particular single nucleotide polymorphisms (SNPs), are key elements for the identification of genes associated with complex diseases and with particular drug responses. The search for literature about sequence variation is hampered by the large number of allelic variants reported for many genes and by the variability in both gene and sequence variants nomenclatures. We describe OSIRIS, a search tool that integrates different sources of information with the aim to retrieve literature about sequence variation of a gene. In addition, it provides a method to link a dbSNP entry with the articles referring to it.