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Neil A. Miller et al.
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Allison R. Wilcox et al.
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The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
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Mary E. Fallat et al.
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M. Whirl-Carrillo et al.
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Samuel J. Aronson et al.
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Ultan McDermott et al.
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Christian Gilissen et al.
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Christopher H. Wade et al.
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