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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Bibliographic Details
Main Authors: Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
Format: Article
Language:English
Published: Nature Portfolio 2024-02-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00404-0