SNAP：一种基于网络的工具，用于使用HapMap识别和注释代理单核苷酸多态性。
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap.
作者信息
Johnson Andrew D, Handsaker Robert E, Pulit Sara L, Nizzari Marcia M, O'Donnell Christopher J, de Bakker Paul I W
机构信息
The Framingham Heart Study of the National Heart, Lung, and Blood Institute of the National Institutes of Health, USA.
出版信息
Bioinformatics. 2008 Dec 15;24(24):2938-9. doi: 10.1093/bioinformatics/btn564. Epub 2008 Oct 30.
Abstract
SUMMARY
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).
AVAILABILITY
SNAP server is available at http://www.broad.mit.edu/mpg/snap/.
摘要
摘要
全基因组关联研究结果的解读因附近等位基因间的连锁不平衡而变得复杂。我们开发了一种灵活的生物信息学查询工具，用于单核苷酸多态性（SNP），基于HapMap来识别和注释处于连锁不平衡状态的附近SNP（代理SNP）。通过提供生成这些数据的图形化绘图功能，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（通过描绘含有相关变异及其代理SNP的基因组区域）。
可用性
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