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

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 pediat...

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Detalles Bibliográficos
Autores principales: Valencia, C. Alexander, Husami, Ammar, Holle, Jennifer, Johnson, Judith A., Qian, Yaping, Mathur, Abhinav, Wei, Chao, Indugula, Subba Rao, Zou, Fanggeng, Meng, Haiying, Wang, Lijun, Li, Xia, Fisher, Rachel, Tan, Tony, Hogart Begtrup, Amber, Collins, Kathleen, Wusik, Katie A., Neilson, Derek, Burrow, Thomas, Schorry, Elizabeth, Hopkin, Robert, Keddache, Mehdi, Harley, John Barker, Kaufman, Kenneth M., Zhang, Kejian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522872/
https://www.ncbi.nlm.nih.gov/pubmed/26284228
http://dx.doi.org/10.3389/fped.2015.00067

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