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Ron Do et al.
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Simon Gravel et al.
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Menachem Fromer et al.
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Niklas Krumm et al.
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Augustine Kong et al.
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Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
Catarina D. Campbell et al.
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JF Zhang et al.
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J Cheung et al.
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NA Rosenberg et al.
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JE Horvath et al.
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