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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Bibliographic Details
Published in:NPJ Genom Med
Main Authors: Wang, Huijun, Qian, Yanyan, Lu, Yulan, Qin, Qian, Lu, Guoping, Cheng, Guoqiang, Zhang, Ping, Yang, Lin, Wu, Bingbing, Zhou, Wenhao
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7200743/
https://ncbi.nlm.nih.gov/pubmed/32411386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-0129-0
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