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纳米孔简单的高效的近端粒到端粒组装可以读取Simplex

Haoyu Cheng^1,2, Han Qu^3,2, Sean McKenzie⁴

¹Department of Biomedical Informatics and Data Science, Yale School of Medicine, New Haven, CT, USA.

bioRxiv : the preprint server for biology

|December 3, 2025

概括

一个新的算法,hifiasm (ONT),使得近端粒到端粒 (T2T) 基因组组装使用标准的牛津纳米孔技术 (ONT) 简单阅读. 这一突破降低了成本和计算需求,使T2T组装更容易获得.

科学领域:

基因组学就是基因组学.
生物信息学是一种生物信息学.

背景情况:

端粒对端粒 (T2T) 基因组组装对于完整的基因组分析至关重要.
目前的T2T组装方法依赖于昂贵且难以获得的来自牛津纳米孔技术 (ONT) 的超长读数.
这限制了许多研究应用的T2T组件可访问性.

研究的目的:

为近T2T基因组组装开发一种新的算法.
为了使T2T组件使用标准ONT简单读取,绕过了超长序列的需要.
为了减少T2T组装的计算和实验障碍.

主要方法:

介绍了hifiasm (ONT),一种用于基因组组装的新算法.
使用标准ONT Simplex读取作为输入数据.
与现有的T2T组装算法进行比较分析.

主要成果:

hifiasm (ONT) 是第一个能够从标准ONT Simplex阅读中接近T2T组合的算法.
与现有方法相比,该方法显著降低了计算要求.
在相同的数据集上,从端粒到端粒重建了更多的染色体.

结论:

hifiasm (ONT) 通过消除超长阅读的需要,使T2T基因组组装民主化.
这一进步扩大了全面基因组测序的可行性,用于更广泛的研究.
该算法降低了成本和复杂性,扩大了T2T组装应用.

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