Department of Epidemiology and Biostatistics, Imperial College.
Bioinformatics. 2010 Mar 15;26(6):838-40. doi: 10.1093/bioinformatics/btq029. Epub 2010 Jan 26.
Inversions are a common form of structural variation, which may have a marked effect on the genome and methods to infer quantities of interest such as those relating to population structure and natural selection. However, due to the challenge in detecting inversions, little is presently known about their impact. Software to simulate inversions could be used to provide a better understanding of how to detect and account for them; but while there are several software packages for simulating population genetic data, none incorporate inversion polymorphisms. Here, we describe a software package, modified from the forward-in-time simulator FREGENE, which simulates the evolution of an inversion polymorphism, of specified length, location, frequency and age, in a population of sequences. We describe previously unreported signatures of inversions in SNP data observed in invertFREGENE results and a known inversion in humans.
C++ source code and user manual are available for download from http://www.ebi.ac.uk/projects/BARGEN/ under the GPL licence.
l.coin@ic.ac.uk; c.hoggart@ic.ac.uk
Supplementary data are available at Bioinformatics online.
倒位是一种常见的结构变异形式,它可能对基因组产生显著影响,并且可以用于推断与群体结构和自然选择等相关的数量。然而,由于检测倒位的挑战,目前对其影响知之甚少。模拟倒位的软件可以帮助更好地理解如何检测和考虑它们;但是,尽管有几个用于模拟群体遗传数据的软件包,但没有一个包含倒位多态性。在这里,我们描述了一个软件包,该软件包是从正向时间模拟器 FREGENE 修改而来的,它可以模拟指定长度、位置、频率和年龄的倒位多态性在序列群体中的演化。我们描述了在 invertFREGENE 结果中观察到的 SNP 数据中以前未报告的倒位特征,以及人类中的一个已知倒位。
C++ 源代码和用户手册可在 http://www.ebi.ac.uk/projects/BARGEN/ 下载,遵循 GPL 许可证。
l.coin@ic.ac.uk; c.hoggart@ic.ac.uk
补充数据可在 Bioinformatics 在线获取。