Purcell Shaun, Daly Mark J, Sham Pak C
Center for Human Genetic Research, MGH, Boston, MA, USA.
Bioinformatics. 2007 Jan 15;23(2):255-6. doi: 10.1093/bioinformatics/btl580. Epub 2006 Nov 21.
We describe a software tool to perform haplotype-based association analysis, for quantitative and qualitative traits, in population and family samples, using single nucleotide polymorphism or multiallelic marker data. A range of tests is offered: omnibus and haplotype-specific tests; prospective and retrospective likelihoods; covariates and moderators; sliding window analyses; permutation P-values. We focus on the ability to flexibly impose constraints on haplotype effects, which allows for a range of conditional haplotype-based likelihood ratio tests: for example, whether an allele has an effect independent of its haplotypic background, or whether a single variant can explain the overall association at a locus. We illustrate using these tests to dissect a multi-locus association.
WHAP is a C/C++ program, freely available from the author's website: http://pngu.mgh.harvard.edu/purcell/whap/
我们描述了一种软件工具,用于在群体和家系样本中,利用单核苷酸多态性或多等位基因标记数据,对数量性状和质量性状进行基于单倍型的关联分析。提供了一系列测试:综合测试和单倍型特异性测试;前瞻性和回顾性似然性;协变量和调节变量;滑动窗口分析;置换P值。我们着重于灵活施加单倍型效应约束的能力,这使得能够进行一系列基于条件单倍型的似然比测试:例如,一个等位基因的效应是否独立于其单倍型背景,或者一个单一变异是否能够解释一个位点的总体关联。我们举例说明如何使用这些测试来剖析多基因座关联。
WHAP是一个C/C++程序,可从作者网站免费获取:http://pngu.mgh.harvard.edu/purcell/whap/