ArticleNature methods2015
Assembly and diploid architecture of an individual human genome via single-molecule technologies.
Article in Nature methods, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 286 papers.
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Who cites it
286 citing papers in PubMed.
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- Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle.Journal of advanced research · 2026Article
- Multiomic Analyses Reveal the Molecular Mechanisms of Arid Adaptation in a Desert Rodent Species.Molecular biology and evolution · 2025Article
- Benchmarking copy number variation detection with low-coverage whole-genome sequencing.Briefings in bioinformatics · 2025Article
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- Kastor: a reference-based comparative approach for assessment and correction of gene-fragmenting errors in long-read assemblies of small genomes.BMC genomics · 2025Article
- The genome and GeneBank genomics of allotetraploid Nicotiana tabacum provide insights into genome evolution and complex trait regulation.Nature genetics · 2025Article
- A dominant role of transcriptional regulation during the evolution of CNature communications · 2025Article
- The Molecular Biology of MEC Salivary Gland Tumors.Annals of otolaryngology and rhinology · 2025Article
- Comparisons of performances of structural variants detection algorithms in solitary or combination strategy.PloS one · 2025Article
- Chromosome-level genome assembly of Phortica okadai, a vector of Thelazia callipaeda.Scientific data · 2024Article
- Genomic structural variants analysis in leukemia by a novel cytogenetic technique: Optical genome mapping.Cancer science · 2024Review
- Chromosome-scale genome assembly of Astragalus membranaceus using PacBio and Hi-C technologies.Scientific data · 2024Article
- Comprehensive assessment of long-read sequencing platforms and calling algorithms for detection of copy number variation.Briefings in bioinformatics · 2024Article
- Genome sequencing, comparative analysis, and gene expression responses of cytochrome P450 genes inEcology and evolution · 2024Article
- KSNP: a fast de Bruijn graph-based haplotyping tool approaching data-in time cost.Nature communications · 2024Article
- Adaptive functions of structural variants in human brain development.Science advances · 2024Article
- A long-read sequencing strategy with overlapping linkers on adjacent fragments (OLAF-Seq) for targeted resequencing and enrichment.Scientific reports · 2024Article
226 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors.
Funding
Abstract
We present the first comprehensive analysis of a diploid human genome that combines single-molecule sequencing with single-molecule genome maps. Our hybrid assembly markedly improves upon the contiguity observed from traditional shotgun sequencing approaches, with scaffold N50 values approaching 30 Mb, and we identified complex structural variants (SVs) missed by other high-throughput approaches. Furthermore, by combining Illumina short-read data with long reads, we phased both single-nucleotide variants and SVs, generating haplotypes with over 99% consistency with previous trio-based studies. Our work shows that it is now possible to integrate single-molecule and high-throughput sequence data to generate de novo assembled genomes that approach reference quality.
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