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Ewan Birney et al.
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Jason Ernst et al.
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CTCF: Master Weaver of the Genome
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Hans Ellegren
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Kerstin B. Meyer et al.
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28-way vertebrate alignment and conservation track in the UCSC Genome Browser
Webb Miller et al.
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A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer et al.
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Haplotype block structure is conserved across mammals
Victor Guryev et al.
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A haplotype map of the human genome
D Altshuler et al.
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GL Bond et al.
CELL (2004)
Genomewide comparison of DNA sequences between humans and chimpanzees
I Ebersberger et al.
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