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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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| Yayımlandı: | NPJ Genom Med |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group UK
2020
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| Konular: | |
| Online Erişim: | 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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