De novo assembly of human genomes with massively parallel short read sequencing
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Genome Research |
Volume | 20 |
Issue number | 2 |
Pages (from-to) | 265-72 |
Number of pages | 7 |
ISSN | 1088-9051 |
DOIs | |
Publication status | Published - 2010 |
Bibliographical note
Keywords: African Continental Ancestry Group; Asian Continental Ancestry Group; Genome, Human; Human Genome Project; Humans; Oligonucleotide Array Sequence Analysis; Sequence Alignment; Sequence Analysis, DNA
ID: 21338168