[HTML][HTML] Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse …
CCY Chung, SPY Hue, NYT Ng, PHL Doong… - Genetics in …, 2023 - Elsevier
Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …
Rapid genomic testing for critically ill children: time to become standard of care?
Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the
paradigm of rare disease diagnosis, delivering results in real time to inform patient …
paradigm of rare disease diagnosis, delivering results in real time to inform patient …
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American …
K Manickam, MR McClain, LA Demmer, S Biswas… - Genetics in …, 2021 - nature.com
Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …
[HTML][HTML] A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants
The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …
An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm
Summary The second Newborn Sequencing in Genomic Medicine and Public Health
(NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing …
(NSIGHT2) study was a randomized, controlled trial of rapid whole-genome sequencing …
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
CE French, I Delon, H Dolling, A Sanchis-Juan… - Intensive care …, 2019 - Springer
Purpose With growing evidence that rare single gene disorders present in the neonatal
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …
period, there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs …
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …
robust clinical and laboratory pathways that provide equitable and consistent service across …
Rapid whole genome sequencing has clinical utility in children in the PICU
Objectives: Genetic disorders are a leading contributor to mortality in the neonatal ICU and
PICU in the United States. Although individually rare, there are over 6,200 single-gene …
PICU in the United States. Although individually rare, there are over 6,200 single-gene …
[HTML][HTML] Integrating genomics into healthcare: a global responsibility
Genomic sequencing is rapidly transitioning into clinical practice, and implementation into
healthcare systems has been supported by substantial government investment, totaling over …
healthcare systems has been supported by substantial government investment, totaling over …