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PRT 软件的新版本,用于兄弟姐妹群组重建,并对兄弟姐妹重建问题中的几个问题进行了评论。

A new version of PRT software for sibling groups reconstruction with comments regarding several issues in the sibling reconstruction problem.

机构信息

Department of Biostatistics and Computational Biology, University of Rochester, Rochester, NY, USA.

出版信息

Mol Ecol Resour. 2012 Jan;12(1):164-78. doi: 10.1111/j.1755-0998.2011.03061.x. Epub 2011 Aug 26.

Abstract

Pedigree reconstruction using genotypic markers has become an important tool for the study of natural populations. The nonstandard nature of the underlying statistical problems has led to the necessity of developing specialized statistical and computational methods. In this article, a new version of pedigree reconstruction tools (PRT 2.0) is presented. The software implements algorithms proposed in Almudevar & Field (Journal of Agricultural Biological and Environmental Statistics, 4, 1999, 136) and Almudevar (Biometrics, 57, 2001a, 757) for the reconstruction of single generation sibling groups (SG). A wider range of enumeration algorithms is included, permitting improved computational performance. In particular, an iterative version of the algorithm designed for larger samples is included in a fully automated form. The new version also includes expanded simulation utilities, as well as extensive reporting, including half-sibling compatibility, parental genotype estimates and flagging of potential genotype errors. A number of alternative algorithms are described and demonstrated. A comparative discussion of the underlying methodologies is presented. Although important aspects of this problem remain open, we argue that a number of methodologies including maximum likelihood estimation (COLONY 1.2 and 2.0) and the set cover formulation (KINALYZER) exhibit undesirable properties in the sibling reconstruction problem. There is considerable evidence that large sets of individuals not genetically excluded as siblings can be inferred to be a true sibling group, but it is also true that unrelated individuals may be genetically compatible with a true sibling group by chance. Such individuals may be identified on a statistical basis. PRT 2.0, based on these sound statistical principles, is able to efficiently match or exceed the highest reported accuracy rates, particularly for larger SG. The new version is available at http://www.urmc.rochester.edu/biostat/people/faculty/almudevar.cfm.

摘要

基于基因型标记的家系重建已成为自然种群研究的重要工具。基础统计问题的非标准性质导致需要开发专门的统计和计算方法。本文介绍了一个新版本的家系重建工具(PRT 2.0)。该软件实现了 Almudevar 和 Field(《农业生物与环境统计杂志》,4,1999,136)和 Almudevar(《生物统计学》,57,2001a,757)提出的用于重建单代同胞群体(SG)的算法。包含了更广泛的枚举算法,从而提高了计算性能。特别是,为较大样本设计的算法的迭代版本以完全自动化的形式包含在内。新版本还包括扩展的模拟实用程序,以及广泛的报告,包括半同胞兼容性、父母基因型估计和潜在基因型错误的标记。描述并演示了一些替代算法。提出了对基础方法的比较讨论。虽然这个问题的重要方面仍然存在,但我们认为,包括最大似然估计(COLONY 1.2 和 2.0)和集合覆盖公式(KINALYZER)在内的许多方法在同胞重建问题中表现出不理想的性质。有大量证据表明,大量未在遗传上排除为同胞的个体可以推断为真实的同胞群体,但也有可能由于偶然原因,无关个体在遗传上与真实的同胞群体相容。可以基于统计学依据识别这些个体。PRT 2.0 基于这些合理的统计原则,能够高效地匹配或超过报告的最高准确率,尤其是对于较大的 SG。新版本可在 http://www.urmc.rochester.edu/biostat/people/faculty/almudevar.cfm 获得。

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