Pathway-PDT: a flexible pathway analysis tool for nuclear families.

Pathway-PDT: a flexible pathway analysis tool for nuclear families.
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DOI:
10.1186/1471-2105-14-267
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发表时间:
2013-09-04
期刊:
影响因子:
3
通讯作者:
Chung RH
Chung RH
中科院分区:
生物学4区
文献类型:
--
作者:
Park YS;Schmidt M;Martin ER;Pericak-Vance MA;Chung RH

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基于全基因组关联研究(GWAS)数据的通路分析已成为一种流行的二级分析策略。尽管已经开发了许多用于病例对照研究的途径分析工具,但没有一种工具可以使用一般核心家庭原始基因型的所有信息。我们开发了pathway -PDT,它使用谱系不平衡检验(PDT)的框架进行一般家庭数据,在基于家庭的GWAS中进行基于原始基因型的途径分析。仿真结果表明,path - pdt比基于p值的方法ALIGATOR更强大。在分析有多个兄弟姐妹或父母失踪的一般核心家庭时,Pathway-PDT也比基于PLINK集的测试更强大。此外,pathway - pdt具有灵活方便的用户界面,允许用户修改其分析参数以及应用各种类型的基因和途径定义。路径- pdt方法是用c++实现的,使用POSIX线程,在计算上是可行的,用于大规模家族GWAS数据集的路径分析。Windows二进制文件以及Makefile和Linux的源代码可在https://sourceforge.net/projects/pathway-pdt/上获得。
Pathway analysis based on Genome-Wide Association Studies (GWAS) data has become popular as a secondary analysis strategy. Although many pathway analysis tools have been developed for case–control studies, there is no tool that can use all information from raw genotypes in general nuclear families. We developed Pathway-PDT, which uses the framework of Pedigree Disequilibrium Test (PDT) for general family data, to perform pathway analysis based on raw genotypes in family-based GWAS. Simulation results showed that Pathway-PDT is more powerful than the p-value based method, ALIGATOR. Pathway-PDT also can be more powerful than the PLINK set-based test when analyzing general nuclear families with multiple siblings or missing parents. Additionally, Pathway-PDT has a flexible and convenient user interface, which allows users to modify their analysis parameters as well as to apply various types of gene and pathway definitions. The Pathway-PDT method is implemented in C++ with POSIX threads and is computationally feasible for pathway analysis with large scale family GWAS datasets. The Windows binary along with Makefile and source codes for the Linux are available at https://sourceforge.net/projects/pathway-pdt/.
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