Article
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
The Journal of molecular diagnostics : JMD - 1 Mar 2022
Murrell Jill R, Nesbitt Addie May I, Baker Samuel W, Pechter Kieran B, Balciuniene Jorune, Zhao Xiaonan, Denenberg Elizabeth H, DeChene Elizabeth T, Wu Chao, Jayaraman Pushkala, Cao Kajia, Gonzalez Michael, Devoto Marcella, Testori Alessandro, Monos John D, Dulik Matthew C, Conlin Laura K, Luo Minjie, McDonald Gibson Kristin, Guan Qiaoning, Sarmady Mahdi, Bhoj Elizabeth, Helbig Ingo, Zackai Elaine H, Bedoukian Emma C, Wilkens Alisha, Tarpinian Jennifer, Izumi Kosuke, Skraban Cara M, Deardorff Matthew A, Medne Livija, Krantz Ian D, Krock Bryan L, Santani Avni B
Abstract excerpt
Clinical exome sequencing (CES) aids in the diagnosis of rare genetic disorders. Herein, we report the molecular diagnostic yield and spectrum of genetic alterations contributing to disease in 700 pediatric cases analyzed at the Children's Hospital of Philadelphia. The overall diagnostic yield was 23%, with three cases having more than one molecular diagnosis and 2.6% having secondary/additional findings. A...
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