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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 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 set...

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Bibliografische gegevens
Hoofdauteurs: C. Alexander Valencia, Ammar eHusami, Jennifer eHolle, Judith A. Johnson, Yaping eQian, Abhinav eMathur, Chao eWei, Subba Rao Indugula, Fanggeng eZou, Haiying eMeng, Lijun eWang, Xia eLi, Rachel eFisher, Tony eTan, Amber eHogart Begtrup, Kathleen eCollins, Katie A. Wusik, Derek eNeilson, Thomas eBurrow, Elizabeth eSchorry, Robert eHopkin, Mehdi eKeddache, John Barker Harley, Kenneth M. Kaufman, Kejian eZhang
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2015-08-01
Reeks:Frontiers in Pediatrics
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Online toegang:http://journal.frontiersin.org/Journal/10.3389/fped.2015.00067/full
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