Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing

BACKGROUND: Rare diseases are complex disorders with huge variability in clinical manifestations. Decreasing cost of next‐generation sequencing (NGS) tests in recent years made it affordable. We witnessed the diagnostic yield and clinical use of different NGS strategies on a myriad of monogenic diso...

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Detalles Bibliográficos
Autores principales: Hong, Sha, Wang, Li, Zhao, Dongying, Zhang, Yonghong, Chen, Yan, Tan, Jintong, Liang, Lili, Zhu, Tianwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565546/
https://www.ncbi.nlm.nih.gov/pubmed/30968598
http://dx.doi.org/10.1002/mgg3.684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565546/
https://www.ncbi.nlm.nih.gov/pubmed/30968598
http://dx.doi.org/10.1002/mgg3.684

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