Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

@article{Monroe2016EffectivenessOW,
  title={Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability},
  author={Glen R. Monroe and Gerardus W J Frederix and Sanne M C Savelberg and Tamar I de Vries and Karen J. Duran and Jasper van der Smagt and Paulien A Terhal and Peter M. van Hasselt and Hester Y. Kroes and Nanda M. Verhoeven-Duif and Isaac J. Nijman and Ellen C. Carbo and Koen L. I. van Gassen and Nine V.A.M. Knoers and Anke M. H{\"o}vels and Mieke M van Haelst and Gepke Visser and Gijs van Haaften},
  journal={Genetics in Medicine},
  year={2016},
  volume={18},
  pages={949-956}
}
Purpose:This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center and calculated the total costs of these patients’ diagnostic trajectory in order to evaluate early WES implementation.Methods:We compared 17 patients’ trio-WES yield with the retrospective costs of diagnostic procedures by comprehensively examining patient records and collecting resource use information for each patient, beginning with… 

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