Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

BACKGROUND: Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown. METHODS: RapSeq, a newly dev...

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Detalles Bibliográficos
Autores principales: Brunelli, Luca, Jenkins, Sabrina M., Gudgeon, James M., Bleyl, Steven B., Miller, Christine E., Tvrdik, Tatiana, Dames, Shale A., Ostrander, Betsy, Daboub, Josue A. F., Zielinski, Brandon A., Zinkhan, Erin K., Underhill, Hunter R., Wilson, Theodore, Bonkowsky, Joshua L., Yost, Christian C., Botto, Lorenzo D., Jenkins, Justin, Pysher, Theodore J., Bayrak‐Toydemir, Pinar, Mao, Rong
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/PMC6625092/
https://www.ncbi.nlm.nih.gov/pubmed/31192527
http://dx.doi.org/10.1002/mgg3.796

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625092/
https://www.ncbi.nlm.nih.gov/pubmed/31192527
http://dx.doi.org/10.1002/mgg3.796

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