Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Investigative Pathology 2022
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904168/
https://www.ncbi.nlm.nih.gov/pubmed/35065284
http://dx.doi.org/10.1016/j.jmoldx.2021.12.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9904168/
https://www.ncbi.nlm.nih.gov/pubmed/35065284
http://dx.doi.org/10.1016/j.jmoldx.2021.12.002

Ejemplares similares