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NanoCross:一种使用纳米孔测序数据检测重组交叉的流程。

NanoCross: A pipeline that detecting recombinant crossover using ONT sequencing data.

作者信息

Chen Zuoquan, Xie Lei, Tang Xi, Zhang Zhiyan

机构信息

State Key Laboratory for Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang 330045, China.

State Key Laboratory for Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang 330045, China.

出版信息

Genomics. 2022 Nov;114(6):110499. doi: 10.1016/j.ygeno.2022.110499. Epub 2022 Sep 26.

Abstract

Meiotic recombination is crucial for eukaryotes but varies among taxonomic scales (between individuals, groups, species, etc.) and genome resolutions. Studying how and why recombination rates change can help us understand the molecular basis and mechanisms of genetics and evolution. We introduce a genome-wide identification script called NanoCross, which uses ONT sequences to detect pooled gamete DNA cross recombination events. NanoCross first reduced sequencing errors and then constructed individual haplotypes based on homopolymer-filtered ONT sequences. Then, each molecule read is used to estimate cross recombination. In the case of moderate heterozygous variation density and sequencing depth, simulations revealed that our technique offers a good level of sensitivity and specificity. We constructed a high-resolution recombination map of wild boar genomes using NanoCross and compared it to recombination maps of male breeding pig populations. NanoCross provides us with a method and scripts for constructing a high-resolution individual genome recombination map utilizing long-read sequencing, as well as a novel approach for examining the variation in individual recombination rate. The source code and data mechanism are hosted on GitHub (https://github.com/zuoquanchen/NanoCross).

摘要

减数分裂重组对真核生物至关重要,但在分类学尺度(个体、群体、物种等之间)和基因组分辨率上存在差异。研究重组率如何以及为何发生变化有助于我们理解遗传学和进化的分子基础及机制。我们引入了一个名为NanoCross的全基因组识别脚本,它利用纳米孔测序(ONT)序列来检测混合配子DNA的交叉重组事件。NanoCross首先减少测序错误,然后基于经均聚物过滤的ONT序列构建个体单倍型。接着,利用每个读取的分子来估计交叉重组。在中等杂合变异密度和测序深度的情况下,模拟结果表明我们的技术具有良好的灵敏度和特异性。我们使用NanoCross构建了野猪基因组的高分辨率重组图谱,并将其与雄性种猪群体的重组图谱进行比较。NanoCross为我们提供了一种利用长读长测序构建高分辨率个体基因组重组图谱的方法和脚本,以及一种研究个体重组率变异的新方法。源代码和数据机制托管在GitHub上(https://github.com/zuoquanchen/NanoCross)。

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