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RecView:一个使用家系数据定位重组位置的交互式 R 应用程序。

RecView: an interactive R application for locating recombination positions using pedigree data.

机构信息

Department of Biology, Lund University, Lund, 22362, Sweden.

出版信息

BMC Genomics. 2023 Nov 25;24(1):712. doi: 10.1186/s12864-023-09807-2.

Abstract

BACKGROUND

Recombination reshuffles alleles at linked loci, allowing genes to evolve independently and consequently enhancing the efficiency of selection. This makes quantifying recombination along chromosomes an important goal for understanding how selection and drift are acting on genes and chromosomes.

RESULTS

We present RecView, an interactive R application and its homonymous R package, to facilitate locating recombination positions along chromosomes or scaffolds using whole-genome genotype data of a three-generation pedigree. RecView analyses and plots the grandparent-of-origin of all informative alleles along each chromosome of the offspring in the pedigree, and infers recombination positions with either of two built-in algorithms: one based on change in the proportion of the alleles with specific grandparent-of-origin, and one on the degree of continuity of alleles with the same grandparent-of-origin. RecView handles multiple offspring and chromosomes simultaneously, and all putative recombination positions are reported in base pairs together with an estimated precision based on the local density of informative alleles. We demonstrate RecView using genotype data of a passerine bird with an available reference genome, the great reed warbler (Acrocephalus arundinaceus), and show that recombination events can be located to specific positions.

CONCLUSIONS

RecView is an easy-to-use and highly effective application for locating recombination positions with high precision. RecView is available on GitHub ( https://github.com/HKyleZhang/RecView.git ).

摘要

背景

重组在连锁基因座上重新排列等位基因,使基因能够独立进化,从而提高选择的效率。这使得量化染色体上的重组成为理解选择和漂变如何作用于基因和染色体的重要目标。

结果

我们提出了 RecView,这是一个交互式 R 应用程序及其同名的 R 包,用于使用三代系谱的全基因组基因型数据方便地定位染色体或支架上的重组位置。RecView 分析并绘制了系谱中后代每条染色体上所有信息性等位基因的祖源,并使用两种内置算法之一推断重组位置:一种基于具有特定祖源的等位基因比例的变化,另一种基于具有相同祖源的等位基因的连续性程度。RecView 同时处理多个后代和染色体,所有推定的重组位置都以碱基对报告,并根据信息性等位基因的局部密度估计精度。我们使用具有可用参考基因组的雀形目鸟类(大苇莺,Acrocephalus arundinaceus)的基因型数据演示了 RecView,并表明可以将重组事件定位到特定位置。

结论

RecView 是一种易于使用且非常有效的应用程序,可高精度定位重组位置。RecView 可在 GitHub(https://github.com/HKyleZhang/RecView.git)上获得。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49b5/10676570/3b4c411dd60d/12864_2023_9807_Fig1_HTML.jpg

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