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Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph
Nature Methods ( IF 36.1 ) Pub Date : 2024-05-10 , DOI: 10.1038/s41592-024-02269-8
Haoyu Cheng 1, 2 , Mobin Asri 3 , Julian Lucas 3 , Sergey Koren 4 , Heng Li 1, 2
Affiliation  

Despite advances in long-read sequencing technologies, constructing a near telomere-to-telomere assembly is still computationally demanding. Here we present hifiasm (UL), an efficient de novo assembly algorithm combining multiple sequencing technologies to scale up population-wide near telomere-to-telomere assemblies. Applied to 22 human and two plant genomes, our algorithm produces better diploid assemblies at a cost of an order of magnitude lower than existing methods, and it also works with polyploid genomes.



中文翻译:


具有双图的二倍体和多倍体基因组的可扩展端粒到端粒组装



尽管长读长测序技术取得了进步,但构建近端粒到端粒的组装在计算上仍然要求很高。在这里,我们提出了 hifiasm (UL),这是一种高效的从头组装算法,结合了多种测序技术,可扩大群体范围内的端粒到端粒组装规模。我们的算法应用于 22 个人类和两种植物基因组,以比现有方法低一个数量级的成本生成更好的二倍体组装体,并且它也适用于多倍体基因组。

更新日期:2024-05-10
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