Cited by 2,926Genomics and Phylogenetic StudiesAlgorithms and Data CompressionGenomic variations and chromosomal abnormalities

De novo assembly of human genomes with massively parallel short read sequencing

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Li, Ruiqiang, Zhu, Hongmei, Ruan, Jue, Qian, Wubin, Fang, Xiaodong, Shi, Zhongbin, Li, Yingrui, Li, Shengting +6 more·2010·Genome Research

Abstract

Next-generation massively parallel DNA sequencing technologies provide ultrahigh throughput at a substantially lower unit data cost; however, the data are very short read length sequences, making de novo assembly extremely challenging. Here, we describe a novel method for de novo assembly of large genomes from short read sequences. We successfully assembled both the Asian and African human genome sequences, achieving an N50 contig size of 7.4 and 5.9 kilobases (kb) and scaffold of 446.3 and 61.9 kb, respectively. The development of this de novo short read assembly method creates new opportunities for building reference sequences and carrying out accurate analyses of unexplored genomes in a cost-effective way.

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Crossref · 10.1101/gr.097261.109

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  • NGS is a powerful and cost-efficient tool for advanced research in many areas, including de novo transcriptome sequencing for non-model organisms.

    “The newly developed high throughput sequencing technology, i.e. Next Generation Sequencing (NGS), including the Roche/454 Genome Sequencer FLX Instrument, the ABI SOLiD System, and the Illumina Genome Analyser, is a powerful and cost-efficient tool for advanced research in many areas, including re-sequencing, microRNA expression profiling, DNA methylation, especially de novo transcriptome”

    From De novo assembly and characterization of root transcriptome using Illumina paired-end sequencing and development of cSSR markers in sweetpotato (Ipomoea batatas) (2010) · cites this paper as [16]

    The Abstract describes next-generation sequencing as high-throughput and substantially cheaper per unit of data, and discusses its use in resequencing. The Discussion says large-scale transcriptome assembly is possible in principle but remains a practical challenge; it does not establish de novo transcriptome sequencing for non-model organisms as a demonstrated application. The passages also do not support the listed microRNA-profiling or DNA-methylation applications. (LLM, conf=0.86)

    Experimental — accuracy not yet measured
  • Over the last two years, Illumina transcriptome or whole genome de novo sequencing and assembly have been successfully used for model and non-model organisms.

    “Over the last two years, with the further confirmation that the relatively short reads can be effectively assembled [15], especially with the great advantage of paired-end sequencing [54], the Illumina transcriptome or whole genome de novo sequencing and assembly have been successfully used for model [12,16,55-58]and non-model organisms [25-27,59].”
  • The final assembly output was also much better than the recent study on sweet potato root transcriptome, which was assembled with the SOAPdenovo software.

    “The final assembly output was also much better than the recent study on sweet potato root transcriptome, which was assembled with the SOAPdenovo software [53].”
  • Gene 1465 of Bacteroides ovatus encoded HsdR family type I site-specific deoxyribonuclease, which can digest DNA to produce monodeoxynucleotides.

    “gene 1465 of Bacteroides ovatus encoded HsdR family type I site-specific deoxyribonuclease, which can digest DNA to produce monodeoxynucleotides.31”

    From Gut microbiota drives structural variation of exogenous probiotics to enhance colonization (2025) · cites this paper as [31]

    The Abstract describes de novo assembly of human genomes, and the section on structural differences discusses insertions and deletions. Searches of our copy for Bacteroides ovatus, gene 1465, HsdR, and monodeoxynucleotides found no passage addressing the claimed gene or enzyme activity. (LLM, conf=0.77)

    Experimental — accuracy not yet measured

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Authors
Li, R., Zhu, H., Ruan, J., Qian, W., Fang, X., Shi, Z., Li, Y., Li, S., Shan, G., Kristiansen, K., Li, S., Yang, H., Wang, J., & Wang, J.
Affiliations
BGI Group (China) (CN)
Venue
Genome Research
Published
2009-12-17
Volume
20
Issue
2
Pages
265-272
ISSN
1088-9051 (ISSN-L)
OpenAlex
W2161546116
Cited by
2,926
References
33
Citations by year
2026: 48 · 2025: 79 · 2024: 105 · 2023: 101 · 2022: 139 · 2021: 177 · 2020: 190 · 2019: 217 · 2018: 150 · 2017: 205 · 2016: 229 · 2015: 244 · 2014: 261 · 2013: 289 · 2012: 292
Type
posted content
Language
en
Open access
Locations
  • Genome Research (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
Funders
  • National Natural Science Foundation of China (30890032, 90608010, 30725008)
  • National High-tech Research and Development Program
  • National Key Research and Development Program of China (2007CB815705, 2007CB815703, 2007CB815701)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Physical Sciences › Computer Science › Artificial Intelligence › Algorithms and Data Compression
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
de novo genome assembly, human genome, short-read sequencing, next-generation sequencing
MeSH terms
Humans, Genome, Human, Human Genome Project, Sequence Alignment, Sequence Analysis, DNA, Oligonucleotide Array Sequence Analysis, Black People, Asian People

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