Ochs-Balcom Heather M, Guo Xiuqing, Yonebayashi Takashi, Wiesner Georgia, Elston Robert C
Department of Social and Preventive Medicine, School of Public Health and Health Professions, University at Buffalo, Buffalo, NY, USA.
Hum Hered. 2010;69(1):45-51. doi: 10.1159/000243153. Epub 2009 Oct 2.
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.
DESPAIR（成对设计）是一个计算机程序，可用于设计一种两阶段连锁研究，该研究使用相对对来研究二分法表型。它能确定最优的两阶段研究设计，即对于给定的检验效能和显著性水平，应该研究多少对亲属，最初应使用多少个等距标记，以及应使用什么标准来指定在第二阶段应围绕哪些标记进行进一步搜索。该程序将计算给定数量的第一阶段标记所需的相对对数量，或给定数量的相对对所需的标记数量。我们重点介绍如何使用最新版本的DESPAIR来确定在感兴趣的候选区域进行额外的精细定位在多大程度上可以提高先前连锁研究样本的检验效能。我们还讨论了该程序的新功能，例如对受影响和不一致的相对对进行平均差异检验，以及在有几种类型的相对对可用时估计全同胞对等效值以设计研究。DESPAIR是S.A.G.E.程序包的一部分，可在网上免费使用。
