Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

@inproceedings{Valencia2015ClinicalIA,
  title={Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience},
  author={C. Alexander Valencia and Ammar Husami and Jennifer Holle and Judith A. Johnson and Yaping Qian and Abhinav Mathur and Chao Wei and Subba Rao Indugula and Fanggeng Zou and Haiying Meng and Lijun Wang and Xia Li and R Danielle Fisher and Tony Tan and Amber Hogart Begtrup and Kathleen P Collins and Katie A. Wusik and D. S. Neilson and Thomas Andrew Burrow and Elizabeth K. Schorry and Robert Hopkin and Mehdi A Keddache and John Barker Harley and Kenneth M Kaufman and Kejian Zhang},
  booktitle={Front. Pediatr.},
  year={2015}
}
BACKGROUND There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. OBJECTIVE We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered. Moreover, we examined the potential cost… CONTINUE READING
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