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从人类历史模型中的错误中吸取的教训。

Lessons Learned from Bugs in Models of Human History.

机构信息

McGill Genome Centre and Department of Human Genetics, McGill University, Montréal, QC H2X 3C9, Canada.

McGill Genome Centre and Department of Human Genetics, McGill University, Montréal, QC H2X 3C9, Canada.

出版信息

Am J Hum Genet. 2020 Oct 1;107(4):583-588. doi: 10.1016/j.ajhg.2020.08.017.

Abstract

Simulation plays a central role in population genomics studies. Recent years have seen rapid improvements in software efficiency that make it possible to simulate large genomic regions for many individuals sampled from large numbers of populations. As the complexity of the demographic models we study grows, however, there is an ever-increasing opportunity to introduce bugs in their implementation. Here, we describe two errors made in defining population genetic models using the msprime coalescent simulator that have found their way into the published record. We discuss how these errors have affected downstream analyses and give recommendations for software developers and users to reduce the risk of such errors.

摘要

模拟在群体基因组学研究中起着核心作用。近年来,软件效率的快速提高使得对来自大量群体的许多个体的大型基因组区域进行模拟成为可能。然而,随着我们研究的人口统计学模型的复杂性不断增加,在其实现中引入错误的机会也在不断增加。在这里,我们描述了在使用 msprime 合并模拟器定义群体遗传模型时犯的两个错误,这些错误已经出现在已发表的记录中。我们讨论了这些错误如何影响下游分析,并为软件开发人员和用户提供了减少此类错误风险的建议。

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