ArticleFundamental research2022
Haplotype-resolved Chinese male genome assembly based on high-fidelity sequencing.
Article in Fundamental research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed.
- A Telomere-to-telomere Diploid Reference Genome and Centromere Structure of the Chinese Quartet.Genomics, proteomics & bioinformatics · 2025Article
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- Chromosome-level genome assembly of Triplophysa bombifrons using PacBio HiFi sequencing and Hi-C technologies.Scientific data · 2024Article
- Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet.Genome biology · 2023Article
- T2T-YAO Reference Genome of Han Chinese - New Step in Advancing Precision Medicine in China.Genomics, proteomics & bioinformatics · 2023Article
- T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese.Genomics, proteomics & bioinformatics · 2023Article
- The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual.G3 (Bethesda, Md.) · 2023Article
- Complete Mitogenome of theGenes · 2023Article
- Article
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10 authors.
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Abstract
The advantages of both the length and accuracy of high-fidelity (HiFi) reads enable chromosome-scale haplotype-resolved genome assembly. In this study, we sequenced a cell line named HJ, established from a Chinese Han male individual by using HiFi and Hi-C. We assembled two high-quality haplotypes of the HJ genome (haplotype 1 (H1): 3.1 Gb, haplotype 2 (H2): 2.9 Gb). The continuity (H1: contig N50 = 28.2 Mb, H2: contig N50 = 25.9 Mb) and completeness (BUSCO: H1 = 94.9%, H2 = 93.5%) are substantially better than those of other Chinese genomes, for example, HX1, NH1.0, and YH2.0. By comparing HJ genome with GRCh38, we reported the mutation landscape of HJ and found that 176 and 213 N-gaps were filled in H1 and H2, respectively. In addition, we detected 12.9 Mb and 13.4 Mb novel sequences containing 246 and 135 protein-coding genes in H1 and H2, respectively. Our results demonstrate the advantages of HiFi reads in haplotype-resolved genome assembly and provide two high-quality haplotypes of a potential Chinese genome as a reference for the Chinese Han population.
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