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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

27 Feb 2024

Abstract excerpt

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 diseases for ICU patients. In 44 studies of children in ICUs with diseases of unknown etiology, 37% received a genetic...

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Genomics and Rare Diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38413639
DOI: 10.1038/s41525-024-00404-0

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