SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
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DOI：
10.1093/bioinformatics/btn564
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发表时间：
2008-12-15
期刊：
影响因子：
5.8
通讯作者：
de Bakker, Paul I. W.
中科院分区：
文献类型：
--
作者：
Johnson, Andrew D.;Handsaker, Robert E.;de Bakker, Paul I. W.
全基因组关联结果的解读因附近等位基因之间的连锁不平衡而变得复杂。我们开发了一种灵活的单核苷酸多态性（SNP）生物信息学查询工具，用于基于国际人类基因组单体型图（HapMap）识别和注释处于连锁不平衡状态的附近SNP（代理SNP）。通过提供为这些数据生成图形的功能，SNP注释和代理搜索（SNAP）服务器将有助于全基因组关联研究结果的解读和比较，以及精细定位实验的设计（通过描绘包含相关变异及其代理的基因组区域）。
The interpretation of genome-wide association results is confounded by linkage disequilibrium between nearby alleles. We have developed a flexible bioinformatics query tool for single-nucleotide polymorphisms (SNPs) to identify and to annotate nearby SNPs in linkage disequilibrium (proxies) based on HapMap. By offering functionality to generate graphical plots for these data, the SNAP server will facilitate interpretation and comparison of genome-wide association study results, and the design of fine-mapping experiments (by delineating genomic regions harboring associated variants and their proxies).