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在大型家系中,使用SLINK和SUP对与某一性状连锁或相关的多个标记进行协调条件模拟。

Coordinated conditional simulation with SLINK and SUP of many markers linked or associated to a trait in large pedigrees.

作者信息

Schäffer Alejandro A, Lemire Mathieu, Ott Jürg, Lathrop G Mark, Weeks Daniel E

机构信息

National Center for Biotechnology Information, National Institutes of Health, DHHS, Bethesda 20894, MD, USA. schaffer @ helix.nih.gov

出版信息

Hum Hered. 2011;71(2):126-34. doi: 10.1159/000324177. Epub 2011 Jul 6.

Abstract

Simulation of genotypes in pedigrees is an important tool to evaluate the power of a linkage or an association study and to assess the empirical significance of results. SLINK is a widely-used package for pedigree simulations, but its implementation has not previously been described in a published paper. SLINK was initially derived from the LINKAGE programs. Over the 20 years since its release, SLINK has been modified to incorporate faster algorithms, notably from the linkage analysis package FASTLINK, also derived from LINKAGE. While SLINK can simulate genotypes on pedigrees of high complexity, one limitation of SLINK, as with most methods based on peeling algorithms to evaluate pedigree likelihoods, is the small number of linked markers that can be generated. The software package SUP includes an elegant wrapper for SLINK that circumvents the limitation on number of markers by using descent markers generated by SLINK to simulate a much larger number of markers on the same chromosome, linked and possibly associated with a trait locus. We have released new coordinated versions of SLINK (3.0; available from http://watson.hgen.pitt.edu) and SUP (v090804; available from http://mlemire.freeshell.org/software or http://watson.hgen.pitt.edu) that integrate the two software packages. Thereby, we have removed some of the previous limitations on the joint functionality of the programs, such as the number of founders in a pedigree. We review the history of SLINK and describe how SLINK and SUP are now coordinated to permit the simulation of large numbers of markers linked and possibly associated with a trait in large pedigrees.

摘要

系谱中基因型的模拟是评估连锁研究或关联研究效能以及评估结果的经验显著性的重要工具。SLINK是一个广泛用于系谱模拟的软件包,但此前尚未有发表的论文对其实现方法进行描述。SLINK最初源自LINKAGE程序。自发布以来的20年里,SLINK已被修改以纳入更快的算法,特别是来自同样源自LINKAGE的连锁分析软件包FASTLINK的算法。虽然SLINK可以模拟高复杂度系谱的基因型,但与大多数基于剥谱算法来评估系谱似然性的方法一样,SLINK的一个局限性是能够生成的连锁标记数量较少。软件包SUP包含一个针对SLINK的出色包装程序,它通过使用SLINK生成的祖先标记来模拟同一染色体上数量多得多的标记(这些标记与一个性状位点连锁且可能相关),从而规避了标记数量的限制。我们发布了新的协同版本的SLINK(3.0;可从http://watson.hgen.pitt.edu获取)和SUP(v090804;可从http://mlemire.freeshell.org/software或http://watson.hgen.pitt.edu获取),这两个软件包进行了整合。由此,我们消除了程序联合功能先前存在的一些限制,例如系谱中奠基者的数量限制。我们回顾了SLINK的历史,并描述了SLINK和SUP现在是如何协同工作以允许在大型系谱中模拟大量与一个性状连锁且可能相关的标记的。

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