Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Abstract Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic dis...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Portfolio
2024-02-01
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| Col·lecció: | npj Genomic Medicine |
| Accés en línia: | https://doi.org/10.1038/s41525-024-00404-0 |
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