DESIGN OF LINKAGE STUDIES

连锁研究的设计

• 批准号: 8171735
• 负责人: Robert C. Elston
• 金额: $ 0.49万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-08-01 至 2011-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8171735
• 关键词: Affect; Computer Retrieval of Information on Scientific Projects Database; Funding; Grant; Institution; Lead; Maps; Phenotype; Relative (related person); Research; Research Design; Research Personnel; Resources; Sampling Studies; Siblings; Source; Specific qualifier value; Staging; Testing; To specify; United States National Institutes of Health; computer program; design; interest; programs

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. DESPAIR (DESign for PAIRs) is a computer program useful for designing a two-stage linkage study using relative pairs for a dichotomous phenotype. It determines the optimal two-stage study design - i.e., for specified power and significance level, how many pairs of relatives should be studied, how many equally spaced markers should be used initially, and what criterion should be used to specify the markers around which further searching should be done at a second stage. The program will calculate either the number of relative pairs required for a given number of first-stage markers or the number of markers required for a given number of relative pairs. We highlight the use of the latest version of DESPAIR to decide to what extent additional fine mapping in a candidate region of interest can lead to an increase in power in a previous linkage study sample. We also discuss new features of the program, such as the mean difference test for affected and discordant relative pairs and estimation of full sibling pair equivalents to design a study when several types of relative pairs are available. DESPAIR is part of the S.A.G.E. program package and is freely available for use online.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 DESPAIR (DESign for PAIRs) 是一个计算机程序，可用于使用相对对来设计二分表型的两阶段连锁研究。它确定最佳的两阶段研究设计 - 即，对于指定的功效和显着性水平，应研究多少对亲属，最初应使用多少个等距标记，以及应使用什么标准来指定周围的标记应在第二阶段进行进一步的搜寻。该程序将计算给定数量的第一阶段标记所需的相对对的数量或给定数量的相对对所需的标记的数量。我们强调使用最新版本的 DESPAIR 来决定候选感兴趣区域中的额外精细映射可以在多大程度上导致先前连锁研究样本的功效增加。我们还讨论了该程序的新功能，例如受影响和不一致的相对对的均值差异检验以及完整兄弟对等效值的估计，以在几种类型的相对对可用时设计研究。绝望是 S.A.G.E 的一部分。程序包，可免费在线使用。