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首页> 外文期刊>Human Heredity >Program update and novel use of the DESPAIR program to design a genome-wide linkage study using relative pairs.
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Program update and novel use of the DESPAIR program to design a genome-wide linkage study using relative pairs.

机译:计划更新和新颖的使用绝望程序来设计使用相对对的基因组联动研究。

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摘要

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.
机译:绝望(对成对设计)是一种用于设计双级连杆研究的计算机程序,使用相对对进行二分表型。它决定了最佳的两阶段研究设计 - 即,对于指定的功率和意义水平,应研究有多少对亲属,最初应该使用多少个等间隔的标记,并且应该使用多少标准来指定周围的标记进一步搜索应在第二阶段完成。该程序将计算给定数量的第一阶段标记或给定数量的相对对所需的标记数所需的相对对的数量。我们强调了使用最新版本的绝望来决定候选地区的候选区域在多大程度上可以导致以前的联系研究样本中的电力增加。我们还讨论了该程序的新功能,例如受影响和不和谐的相对对的平均差异测试和完整兄弟对等同物的估计设计若干类型的相对对时设计研究。绝望是s.a.g.e的一部分。程序包并自由地使用在线使用。

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