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Article

Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders.

Pediatric research - 1 Nov 2020

Carey Abigail S, Schacht John P, Umandap Christine, Fasel David, Weng Chunhua, Cappell Joshua, Chung Wendy K, Kernie Steven G

Abstract excerpt

BACKGROUND: Genomic assessment previously took months to result and was unable to impact clinical care in the pediatric intensive care unit (PICU). The advent of rapid exome sequencing potentially changes this. We investigated the impact of rapid exome sequencing in a pilot study on pediatric patients admitted to a single PICU with new-onset metabolic/neurologic disease. METHODS: Rapid exome sequencing (7 days to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32221475
DOI: 10.1038/s41390-020-0858-x
PMCID: PMC7529675

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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