Software to compute sample size for high-volume genetic studies

描述(由申请人提供)：在癌症、心脏病和哮喘等复杂特征的研究中，研究人员在设计研究时必须对所需样本量有一个诚实的估计。在包括基于路径的候选基因和全基因组关联研究在内的大量遗传研究的现代时代，这一点尤其如此，因为它们通常需要大量样本，因此进行起来可能相当昂贵。我们第一阶段和第二阶段项目的总体目标将是开发一个全面的软件程序(QuantoHV)，用于设计关于基因、环境因素、基因-环境(GWE)相互作用和基因-基因(GWG)相互作用的大批量关联研究。在开发QuantoHV时，我们将考虑在设计大量复杂性状研究时出现的问题，包括多重比较、一阶段和两阶段设计、群体分层、研究设计的选择(例如病例对照、队列、基于家庭的研究)以及现有遗传数据资源的使用(例如HapMap)。在这一第一阶段的应用中，我们将实现以下目标：1.考虑到基因研究的当前和未来趋势，确定QuantoHV中应该包括哪些特定特征。2.确定是将QuantoHV开发为Windows应用还是基于Web的应用。3.研究QuantoHV的商业化和分销的替代模式这个项目的研究人员在开发用户友好的遗传流行病学研究软件方面有很长的历史。这一点，以及他们在设计和进行大量基因研究方面的集体经验，使这个研究团队成为唯一有资格开发软件程序的人，该软件程序将填补一个重要的空白，并最终导致对复杂特征的更好设计的研究。与公共健康相关：目前还没有软件程序来计算许多研究人员目前提出的研究类型的样本量或功率，特别是那些利用大量遗传数据的研究，如候选基因和全基因组关联研究。第一阶段目标的成功完成将使我们能够开发一种独特而新颖的软件程序来填补这一空白。

DESCRIPTION (provided by applicant): In the study of complex traits such as cancer, heart disease, and asthma, it is essential for investigators to have an honest estimate of required sample size when they design their studies. This is particularly true in the modern era of high-volume genetic studies, including pathway-based candidate-gene and genome-wide association studies, as they typically require large sample sizes and therefore can be quite expensive to conduct. The overall aim of our Phase I and Phase II projects will be to develop a comprehensive software program (QuantoHV) for the design of High Volume association studies of genes, environmental factors, gene- environment (GWE) interaction, and gene-gene (GWG) interaction. In developing QuantoHV, we will account for issues that arise in the design of high-volume studies of complex traits, including multiple comparisons, one- versus two-stage designs, population stratification, choice of study design (e.g. case-control, cohort, family-based), and the use of existing genetic data resources (e.g. HapMap). In this Phase I application, we will achieve the following aims: 1. Determine which specific features should be included in QuantoHV, taking into account current and future trends in genetic research. 2. Determine whether to develop QuantoHV as a Windows or a Web-based application. 3. Investigate alternative models for commercialization and distribution of QuantoHV The investigators on this project have a long history of working together to develop user-friendly software for genetic-epidemiology studies. This, and their collective experience in designing and carrying out high-volume genetic studies, makes this study team uniquely qualified to develop a software program that will fill an important void and ultimately will lead to better-designed studies of complex traits. PUBLIC HEALTH RELEVANCE: There are currently no software programs that compute sample size or power for the types of studies currently being proposed by many investigators, specifically those that utilize high-volume genetic data such as candidate-gene and genome-wide association studies. Successful completion of our Phase I aims will put us in position to develop a unique and novel software program that will fill this void.