[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 …
Clinical utility of genomic sequencing: a measurement toolkit
Whole-genome sequencing (WGS) is positioned to become one of the most robust
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …
strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable …
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 …
Application of full-spectrum rapid clinical genome sequencing improves diagnostic rate and clinical outcomes in critically ill infants in the China Neonatal Genomes …
B Wu, W Kang, Y Wang, D Zhuang, L Chen… - Critical Care …, 2021 - journals.lww.com
OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome
sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically …
sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically …
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs
Background Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-
predicated precision medicine. Previous evidence focused predominantly on infants from …
predicated precision medicine. Previous evidence focused predominantly on infants from …
Cost efficacy of rapid whole genome sequencing in the pediatric intensive care unit
E Sanford Kobayashi, B Waldman, BM Engorn… - Frontiers in …, 2022 - frontiersin.org
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill
children in the intensive care unit (ICU) has been substantiated by multiple studies, but …
children in the intensive care unit (ICU) has been substantiated by multiple studies, but …
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
SF Kingsmore, A Henderson, MJ Owen… - NPJ genomic …, 2020 - nature.com
Understanding causes of infant mortality shapes public health policy and prioritizes
diseases for investments in surveillance, intervention and medical research. Rapid genomic …
diseases for investments in surveillance, intervention and medical research. Rapid genomic …
Breaking barriers to rapid whole genome sequencing in pediatrics: Michigan's Project Baby Deer
CP Bupp, EG Ames, MK Arenchild, S Caylor… - Children, 2023 - mdpi.com
The integration of precision medicine in the care of hospitalized children is ever evolving.
However, access to new genomic diagnostics such as rapid whole genome sequencing …
However, access to new genomic diagnostics such as rapid whole genome sequencing …
Hematologically important mutations: leukocyte adhesion deficiency (second update)
D Roos, K Van Leeuwen, M Madkaikar… - Blood Cells, Molecules …, 2023 - Elsevier
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …
adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients …
Combining metagenomic sequencing with whole exome sequencing to optimize clinical strategies in neonates with a suspected central nervous system infection
M Ge, M Gan, K Yan, F Xiao, L Yang, B Wu… - Frontiers in cellular …, 2021 - frontiersin.org
Objectives Central nervous system (CNS) infection has a high incidence and mortality in
neonates, but conventional tests are time-consuming and have a low sensitivity. Some rare …
neonates, but conventional tests are time-consuming and have a low sensitivity. Some rare …