Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience

• Asıl Yazarlar: C. Alexander Valencia (Yazar), Ammar eHusami (Yazar), Jennifer eHolle (Yazar), Judith A. Johnson (Yazar), Yaping eQian (Yazar), Abhinav eMathur (Yazar), Chao eWei (Yazar), Subba Rao Indugula (Yazar), Fanggeng eZou (Yazar), Haiying eMeng (Yazar), Lijun eWang (Yazar), Xia eLi (Yazar), Rachel eFisher (Yazar), Tony eTan (Yazar), Amber eHogart Begtrup (Yazar), Kathleen eCollins (Yazar), Katie A. Wusik (Yazar), Derek eNeilson (Yazar), Thomas eBurrow (Yazar), Elizabeth eSchorry (Yazar), Robert eHopkin (Yazar), Mehdi eKeddache (Yazar), John Barker Harley (Yazar), Kenneth M. Kaufman (Yazar), Kejian eZhang (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2015-08-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...