Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

@article{Lazaridis2016OutcomeOW,
  title={Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.},
  author={Konstantinos N. Lazaridis and Kimberly A. Schahl and Margot A Cousin and Dusica Babovic-Vuksanovic and Douglas L Riegert-Johnson and Ralitza H. Gavrilova and Tammy M McAllister and Noralane M. Lindor and Roshini S. Abraham and Michael J. Ackerman and Pavel Pichurin and David R. Deyle and Dimitar K. Gavrilov and Jennifer L. Hand and Eric W. Klee and Michael C Stephens and Myra J. Wick and Elizabeth J. Atkinson and D R Linden and Matthew J. Ferber and Eric D. Wieben and Gianrico Farrugia},
  journal={Mayo Clinic proceedings},
  year={2016},
  volume={91 3},
  pages={297-307}
}
OBJECTIVE To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the first 18 months of an individualized medicine clinic (IMC). PATIENTS AND METHODS The IMC offered WES to physicians of Mayo Clinic practice for patients with suspected genetic disease. DNA specimens of the proband and relatives were submitted to WES laboratories. We developed the Genomic Odyssey Board with multidisciplinary expertise to determine… CONTINUE READING