Scalable telomere-to-telomere assembly for diploid and polyploid genomes with double graph

被引:17
作者
Cheng, Haoyu [1 ,2 ]
Asri, Mobin [3 ]
Lucas, Julian [3 ]
Koren, Sergey [4 ]
Li, Heng [1 ,2 ]
机构
[1] Dana Farber Canc Inst, Dept Data Sci, Boston, MA 02215 USA
[2] Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA
[3] Univ Calif Santa Cruz, Genom Inst, Santa Cruz, CA USA
[4] Natl Human Genome Res Inst, Genome Informat Sect, Computat & Stat Genom Branch, NIH, Bethesda, MD USA
基金
美国国家卫生研究院;
关键词
D O I
10.1038/s41592-024-02269-8
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
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. By effective and efficient integration of PacBio HiFi, Oxford Nanopore Technologies ultra-long and other sequencing data types, hifiasm (UL) enables telomere-to-telomere diploid and polyploid genome assembly at a population scale.
引用
收藏
页码:967 / 970
页数:11
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