Stochastic Processes in Population Genetics

描述(由申请人提供)：本提案的主要目的是 将国际和平研究所参与的多个方面的工作结合在一起 在进化、连锁分析和生物信息学三个领域工作了数年。至 解决有关人类疾病、进化和分析的问题 来自人类基因组计划的数据。 进化群体遗传学理论在很大程度上考虑了一个基因 基因座和随机交配种群。这两个限制都是 不适合分析来自人类基因组的数据。人类 种群不是随机交配的，全基因组数据表明 考虑任意位置集合的分析是必需的。部分内容 建议的研究涉及到构建克服这些问题的理论 限制。这将与PI当前执行的工作相关联 在生物信息学，特别是与BLAST程序相关的理论方面 和进化的系统发育模型。 拟议研究的一个主要方面将涉及寻找 疾病基因，使用全基因组数据。例如，全基因组共享数据 现在可用于收集受影响个人的后代。这个 对这些数据的分析需要新的统计方法，将 基因组错配扫描方法已经完成。 其他目标涉及对特定主题的进一步研究。作为一个例子， 来自用户的问题不断出现，涉及 传输/不平衡检验(TDT)，由PI在八年前引入 目前广泛用于中国疾病的连锁和关联研究。 人类。这些往往需要新的理论，TDT的总体发展也是如此 理论。

DESCRIPTION (provided by applicant): The main aim of this proposal is to bring together various aspects of work which the PI has been involved with over many years in the three areas of evolution, linkage analysis and bioinformatics. to address questions concerning diseases in humans, evolution, and the analysis of data from the Human Genome Project. Evolutionary population genetics theory has in large part considered one gene locus and random-mating populations. Both of these restrictions are inappropriate for the analysis of data from the human genome. The human population does not mate at random, and whole genome data implies that an analysis considering arbitrary collections of loci is required. Part of the proposed research involves construction of theory overcoming these restrictions. This will be linked with work currently being performed by the PI in bioinformatics, in particular on theory associated with the BLAST procedure and evolutionary phylogenetic models. A major aspect of the proposed research will concern new methods for finding disease genes, using whole-genome data. For example, whole-genome sharing data is now available for collections of descendants of an affected individual. The analysis of these data requires new statistical methods, generalizing the genomic mismatch scanning methods already completed. Other aims concern further research on specific topics. As one example, questions from users continually arise concerning the transmission/disequilibrium test (TDT), introduced by the PI eight years ago and now widely used for linkage and association studies concerning diseases in humans. These often require new theory, as does the general development of TDT theory.