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Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

  • Joseph B. Hiatt
  • Colin C. Pritchard
  • Stephen J. Salipante
  • Brian J. O'Roak
  • Jay Shendure
  • First Published February 4, 2013

Copy number variation detection and genotyping from exome sequence data

  • Niklas Krumm
  • Peter H. Sudmant
  • Arthur Ko
  • Brian J. O'Roak
  • Maika Malig
  • Bradley P. Coe
  • Aaron R. Quinlan
  • Deborah A. Nickerson
  • Evan E. Eichler
  • First Published May 14, 2012
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