2009
DOI: 10.1101/gr.097261.109
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De novo assembly of human genomes with massively parallel short read sequencing

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, respective… Show more

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Cited by 2,602 publications
(2,107 citation statements)
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References 31 publications
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“…The assembly used default parameters with the exception of using a ploidy setting of 2 (PLOIDY = 2), as recommended for a diploid organism, in the data preparation stage, and a minimum contig size set to 200 bp (MIN_CONTIG = 200) in the running stage (running the RunAllPathsLG command). Gaps within the scaffolds were filled based on the short insert size libraries, using the GapCloser in the SOAPdenovo package 42 . Assembled scaffolds were assigned to chromosomes by the order and orientation of a linkage map combined with a synteny analysis between S. litura and B. mori.…”
Section: Methodsmentioning
confidence: 99%
“…The assembly used default parameters with the exception of using a ploidy setting of 2 (PLOIDY = 2), as recommended for a diploid organism, in the data preparation stage, and a minimum contig size set to 200 bp (MIN_CONTIG = 200) in the running stage (running the RunAllPathsLG command). Gaps within the scaffolds were filled based on the short insert size libraries, using the GapCloser in the SOAPdenovo package 42 . Assembled scaffolds were assigned to chromosomes by the order and orientation of a linkage map combined with a synteny analysis between S. litura and B. mori.…”
Section: Methodsmentioning
confidence: 99%
“…We carried out the whole-genome assembly using SOAPdenovo for the remaining reads after the above filtering and correction steps 9,10 . The contigs after SOAPdenovo corrections were formed without any gap.…”
Section: Methodsmentioning
confidence: 99%
“…1). These sequences were assembled de novo using SOAPdenovo (version 1.03) software 15 , resulting in 542,145 contigs and 285,383 scaffolds longer than 100 bp. The contig N50 size was 18.7 kb, which represents the size above which half of the total length of the sequence set can be found.…”
Section: Short-read De Novo Sequencing and Assemblymentioning
confidence: 99%