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

The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.

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

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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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Metadata

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 › Mathematics › Theoretical Computer Science › 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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