A Clinician’s perspective on clinical exome sequencing

@article{ODonnellLuria2016ACP,
  title={A Clinician’s perspective on clinical exome sequencing},
  author={Anne H. O’Donnell-Luria and David T. Miller},
  journal={Human Genetics},
  year={2016},
  volume={135},
  pages={643-654}
}
Clinical exome sequencing has clearly improved our ability as clinicians to identify the cause of a wide variety of disorders. Prior to exome sequencing, a majority of patients with apparent syndromes never received a specific molecular genetic diagnosis despite extensive diagnostic odysseys. Even for those receiving an answer to the question of what caused their disorder, the diagnostic odyssey often spanned years to decades. Determining the particular genetic cause in an individual patient… CONTINUE READING
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