Article

Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea

2025-01-17

Abstract excerpt

This study aimed to implement genome sequencing using an automated pipeline for critically ill pediatric patients within a real-world healthcare system. Twenty patients under 36 months of age, admitted to the NICU/PICU or suspected of having rapidly progressive genetic disorders, were enrolled. Trio-based genome sequencing was performed using an optimized processing pipeline, which automatically performed mapping,...

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Literature Corpus work: f680b1e4-4bc6-5c58-9c6b-61792ca03f36
DOI: 10.1101/2025.01.16.25320442

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