Linkage disequilibrium mapping and other applications of the ancestral recombination graph

聚结过程是一种用来模拟种群谱系的随机过程，近年来在人类遗传学研究中得到了广泛的应用。我们开发了一种方法，该方法使用结合重组的凝聚过程（Larribe等人，2002年，Larribe 2004年）来估计影响疾病的基因突变的位置，例如进行遗传精细作图。在使用遗传标记和复合条件可能性策略的“窗口”提高了估计的稳定性之后（Larribe和Lessard 2008），我们建议在复杂遗传疾病的背景下进一步发展该方法，这是当今人类遗传学的主要兴趣。目标是能够估计遗传模型的参数（不完全外显率和表型），在方法中考虑这些估计参数，能够模拟基因之间相互作用的复杂方案，能够处理数量性状并在基因组尺度上开发方法。

The coalescent process, a stochastic process used to simulate population genealogies, has attracted much attention recently, mostly due to the numerous applications in human genetics research. We have developed a method, which uses the coalescent process with recombination (Larribe et al. 2002, Larribe 2004) to estimate the location of a genetic mutation influencing a disease, e.g. to do genetic fine mapping. After having improved the stability of the estimates using "windows" of genetic marker and composite-conditional-likelihood strategy (Larribe and Lessard 2008), we propose to develop further the method in the context of complex genetic disease, which is of major interest in human genetics today. The goal is to be able to estimate parameters of a genetic model (incomplete penetrance and phenocopy), to take these estimated parameters into account in the method, to be able to model complex schemes of interactions between genes, to be able to treat quantitative trait and to develop the method at the genome scale.