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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Pubblicato in:Front Pediatr
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2015
Soggetti:
Pediatrics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4522872/
https://ncbi.nlm.nih.gov/pubmed/26284228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2015.00067
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