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Jian-Min Chen et al.
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Stephan J. Sanders et al.
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Andreas Untergasser et al.
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Cornelis A. Albers et al.
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Aaron McKenna et al.
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Heng Li et al.
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Stephen Leslie et al.
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SOAP: short oligonucleotide alignment program
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Heng Li et al.
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Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
Daniel R. Zerbino et al.
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Mitch McVey et al.
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Y Itoh et al.
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JP Vinson et al.
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PA Pevzner et al.
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Evidence for a high frequency of simultaneous double-nucleotide substitutions
M Averof et al.
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