Key Laboratory of Trace Elements and Endemic Diseases of Ministry of Health, School of Public Health, Health Science Center, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Bioinformatics. 2016 Mar 15;32(6):946-8. doi: 10.1093/bioinformatics/btv668. Epub 2015 Nov 14.
: Pleiotropy is common in the genetic architectures of complex diseases. To the best of our knowledge, no analysis tool has been developed for identifying pleiotropic pathways using multiple genome-wide association study (GWAS) summaries by now. Here, we present PAPA, a flexible tool for pleiotropic pathway analysis utilizing GWAS summary results. The performance of PAPA was validated using publicly available GWAS summaries of body mass index and waist-hip ratio of the GIANT datasets. PAPA identified a set of pleiotropic pathways, which have been demonstrated to be involved in the development of obesity.
PAPA program, document and illustrative example are available at http://sourceforge.net/projects/papav1/files/
Supplementary data are available at Bioinformatics online.
：复杂疾病的遗传结构中普遍存在基因多效性。据我们所知，目前还没有分析工具可以利用多个全基因组关联研究（GWAS）汇总结果来识别多效性途径。在这里，我们提出了 PAPA，这是一种利用 GWAS 汇总结果进行多效性途径分析的灵活工具。使用 GIANT 数据集的体重指数和腰臀比的公开可用 GWAS 汇总结果验证了 PAPA 的性能。PAPA 确定了一组已被证明与肥胖发展有关的多效性途径。
PAPA 程序、文档和说明性示例可在 http://sourceforge.net/projects/papav1/files/ 获得
补充数据可在 Bioinformatics 在线获得。
