ArticleNucleic acids research2022
De novo assembly of human genome at single-cell levels.
Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Multiplatform comparisons and annotation of structural variants highlight the utility of the T2T reference genome in human diagnostics.GigaScience · 2026Article
- STRaM: A genetic framework for improved cell product provenance for research and clinical translations.Communications biology · 2025Article
- Long and Accurate: How HiFi Sequencing is Transforming Genomics.Genomics, proteomics & bioinformatics · 2025Review
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- Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution.Nucleic acids research · 2025Article
- TDFPS-Designer: an efficient toolkit for barcode design and selection in nanopore sequencing.Genome biology · 2024Article
- Low-input PacBio sequencing generates high-quality individual fly genomes and characterizes mutational processes.Nature communications · 2024Article
- Chasing Sequencing Perfection: Marching Toward Higher Accuracy and Lower Costs.Genomics, proteomics & bioinformatics · 2024Review
- Advances in single-cell long-read sequencing technologies.NAR genomics and bioinformatics · 2024Article
- Nonribosomal Peptide Synthetase Specific Genome Amplification Using Rolling Circle Amplification for Targeted Gene Sequencing.International journal of molecular sciences · 2024Article
- Mapping crossover events of mouse meiotic recombination by restriction fragment ligation-based Refresh-seq.Cell discovery · 2024Article
- Leveraging Single-Cell Populations to Uncover the Genetic Basis of Complex Traits.Annual review of genetics · 2023Review
- Mabs, a suite of tools for gene-informed genome assembly.BMC bioinformatics · 2023Article
- scNanoHi-C: a single-cell long-read concatemer sequencing method to reveal high-order chromatin structures within individual cells.Nature methods · 2023Article
- Long-read-based single sperm genome sequencing for chromosome-wide haplotype phasing of both SNPs and SVs.Nucleic acids research · 2023Article
- Long-read whole-genome analysis of human single cells.Nature communications · 2023Article
- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- Benchmarking of Nanopore R10.4 and R9.4.1 flow cells in single-cell whole-genome amplification and whole-genome shotgun sequencing.Computational and structural biotechnology journal · 2023Article
- Single-cell omics: A new direction for functional genetic research in human diseases and animal models.Frontiers in genetics · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome assembly has been benefited from long-read sequencing technologies with higher accuracy and higher continuity. However, most human genome assembly require large amount of DNAs from homogeneous cell lines without keeping cell heterogeneities, since cell heterogeneity could profoundly affect haplotype assembly results. Herein, using single-cell genome long-read sequencing technology (SMOOTH-seq), we have sequenced K562 and HG002 cells on PacBio HiFi and Oxford Nanopore Technologies (ONT) platforms and conducted de novo genome assembly. For the first time, we have completed the human genome assembly with high continuity (with NG50 of ∼2 Mb using 95 individual K562 cells) at single-cell levels, and explored the impact of different assemblers and sequencing strategies on genome assembly. With sequencing data from 30 diploid individual HG002 cells of relatively high genome coverage (average coverage ∼41.7%) on ONT platform, the NG50 can reach over 1.3 Mb. Furthermore, with the assembled genome from K562 single-cell dataset, more complete and accurate set of insertion events and complex structural variations could be identified. This study opened a new chapter on the practice of single-cell genome de novo assembly.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.