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Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

Genetic diseases are a leading cause of death in infants in the intensive care setting; therefore, rapid and accurate genetic diagnosis is desired. To validate 24-h trio-exome sequencing (TES), samples from probands and their parents were processed by the AmpliSeq /Ion S5XL platform in a hospital cl...

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Detalles Bibliográficos
Autores principales:	Wang, Huijun, Qian, Yanyan, Lu, Yulan, Qin, Qian, Lu, Guoping, Cheng, Guoqiang, Zhang, Ping, Yang, Lin, Wu, Bingbing, Zhou, Wenhao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200743/ https://www.ncbi.nlm.nih.gov/pubmed/32411386 http://dx.doi.org/10.1038/s41525-020-0129-0

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