Genomic variation, hapmap and disease

描述（申请人提供）：到2005年10月，人类基因组单体型图项目第一阶段的数据和分析将发表在《自然》杂志上，第二阶段的基因型预计将完成。在这些成就和其他数据的催化下，统计遗传分析方法正在迅速发展，从而产生了用于人类疾病研究的新的和改进的方法。虽然人类基因组单体型图资源的创建已经非常先进，并且可以公开获得，但分析这些数据的方法和见解还处于更不成熟的阶段。此外，在收集患者样本全基因组基因型数据的新工具的启发下，全基因组关联研究已经成为现实，第一个大规模和强有力的研究在2005年进行。 对数据和方法的公开讨论和评估对于确保整个研究界的科学严谨性和高标准的发展至关重要。这样的讨论需要涉及参与创建HapMap资源的人员（可以提供其创建的见解），群体遗传和统计分析师（计算分析专家）以及大量将其应用于患者样本的疾病研究人员。 为了促进这些互动，我们建议在2004年和2005年两次非常成功的会议之后，由人类基因组单体型图项目分析小组的领导人（大卫阿尔特什基、阿拉文达·查克拉瓦蒂、马克·戴利和彼得·唐纳利）组织一次科学会议（“挖掘人类基因组单体型图”）。拟议会议的目的将是审查HapMap的数据，并讨论需要哪些其他数据，以促进新的计算方法的评估和开发，并讨论从疾病样本的深入分析中学到了什么。会议将包括应邀演讲以及基于摘要提交的讲座和海报。

DESCRIPTION (provided by applicant): By October 2005, data and analysis from Phase I of the HapMap Project will be published in Nature, and genotypes from Phase II are expected to be complete. Catalyzed by these accomplishments and other data, methods for statistical genetic analysis are rapidly evolving, resulting in new and improved methods for disease research in the human population. While the creation of the HapMap resource is well advanced and publicly available, the methods and insights from analysis of such data are at a more immature stage. Moreover, sparked by new tools for collecting genotype data genome-wide in patient samples, whole genome association studies have become a reality, with the first large and well-powered such studies being performed in 2005. Open discussion and evaluation of data and methods are critical to ensure scientific rigor and development of high standards across this research community. Such discussions need to involve both people involved in creation of the HapMap resource (who can provide insights into its creation), population genetic and statistical analysts (expert in its computational analysis), and a large number of disease researchers who are applying it to patient samples. To facilitate these interactions, we propose a scientific meeting ("Mining the HapMap") organized by leaders of the HapMap Project's analysis group (David Altshuler, Aravinda Chakravarti, Mark Daly, and Peter Donnelly) that follows on two highly successful meetings in 2004 and 2005. The aims of the proposed meeting will be to review data from HapMap and discuss what other data is required, to stimulate evaluation and development of new computational methods, and to discuss what has been learned from intensive analysis of disease samples. The meeting will consist of invited presentations as well as talks and posters based on abstract submissions.