ArticleNPJ genomic medicine2020
Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants: A Systematic Review.JAMA network open · 2022Pooled it
- The clinical utility of exome and genome sequencing across clinical indications: a systematic review.Human genetics · 2021Pooled it
- Rapid whole-genome sequencing in the pediatric intensive care unit: from etiologic diagnosis to precision management-a narrative review.Translational pediatrics · 2026Review
- Rapid genomic sequencing in the NICU: Who to test and why.European journal of human genetics : EJHG · 2026Review
- Role of next generation sequencing in neonatal diagnosis and screening.Journal of neuromuscular diseases · 2026Review
- Machine learning-based genome-wide association analysis to construct a clinical decision model for severe neonatal jaundice.Translational pediatrics · 2026Article
- Next-generation sequencing in newborn screening: Current status, challenges, and future perspectives.Pediatric investigation · 2026Review
- Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine.Children (Basel, Switzerland) · 2025Review
- SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns.American journal of human genetics · 2025Article
- Comparative Analysis of Gut Microbiota between Captive and Wild Long-Tailed Gorals for Ex Situ Conservation.Microorganisms · 2024Article
- Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.Clinical genetics · 2024Article
- Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.Pediatric investigation · 2024Review
- Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024Review
- A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.BMC medical genomics · 2023Article
- Perspectives of Rare Disease Experts on Newborn Genome Sequencing.JAMA network open · 2023Article
- The implementation and utility of clinical exome sequencing in a South African infant cohort.Frontiers in genetics · 2023Article
- Correspondence on "Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions" by Lavelle et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.Journal of autism and developmental disorders · 2022Article
- The Role of Genome Sequencing in Neonatal Intensive Care Units.Annual review of genomics and human genetics · 2022Review
- Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.NPJ genomic medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic diseases are a leading cause of death in infants in the intensive care setting; therefore, rapid and accurate genetic diagnosis is desired. To validate 24-h trio-exome sequencing (TES), samples from probands and their parents were processed by the AmpliSeq /Ion S5XL platform in a hospital clinical laboratory. Infants from the intensive care unit (ICU) suspected of having a genetic disease were enrolled. Regular and 24-h TES using the Agilent SureSelect capture kit/Illumina platform were performed on all samples in parallel. Of 33 enrolled infants, 23 received positive results with rapid TES, and an additional two diagnoses were achieved with regular TES. Among the 23 diagnosed patients, 10 experienced changes in medical management, such as hematopoietic stem cell transplant. Ten diagnosed cases were discharged prior to receiving the regular TES results; six received timely symptom control, and four withdrew medical support. Rapid TES enabled faster time to diagnosis, which resulted in an overall decrease in length of hospital stay. The 24-h TES can serve as a rapid response tool for patients with suspected monogenic disorders and can guide clinical decision-making in urgent cases.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.