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D. Bell et al.
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Christian Gilissen et al.
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Heng Li et al.
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Uri David Akavia et al.
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R. I. Aqeilan et al.
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Giuseppe Merla et al.
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A small-cell lung cancer genome with complex signatures of tobacco exposure
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Sarah B. Ng et al.
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Advances in understanding cancer genomes through second-generation sequencing
Matthew Meyerson et al.
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DNMT3A Mutations in Acute Myeloid Leukemia.
Timothy J. Ley et al.
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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
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J. William Harbour et al.
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Jared C. Roach et al.
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[Anonymous]
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The Sequence Alignment/Map format and SAMtools
Heng Li et al.
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Heather C. Mefford et al.
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Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
Andreas Gnirke et al.
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Elaine R. Mardis et al.
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Peter J. Campbell et al.
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Mapping and quantifying mammalian transcriptomes by RNA-Seq
Ali Mortazavi et al.
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A faster circular binary segmentation algorithm for the analysis of array CGH data
E. S. Venkatraman et al.
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