Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
MC Nurchis, G Altamura, MT Riccardi, FC Radio… - Archives of Public …, 2023 - Springer
Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
disorders, about 85% of which are ultra-rare, affecting less than one in one million …
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
DJ Stavropoulos, D Merico, R Jobling, S Bowdin… - NPJ genomic …, 2016 - nature.com
The standard of care for first-tier clinical investigation of the aetiology of congenital
malformations and neurodevelopmental disorders is chromosome microarray analysis …
malformations and neurodevelopmental disorders is chromosome microarray analysis …
[HTML][HTML] Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a scoping review of the literature
Purpose Availability of clinical genomic sequencing (CGS) has generated questions about
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
As test costs decline, whole-exome sequencing (WES) has become increasingly used for
clinical diagnosis, and now represents the primary alternative to gene panel testing for …
clinical diagnosis, and now represents the primary alternative to gene panel testing for …
[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 …
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
H Runheim, M Pettersson, A Hammarsjö… - Scientific Reports, 2023 - nature.com
Whole genome sequencing (WGS) has the potential to be a comprehensive genetic test,
especially relevant for individuals with neurodevelopmental disorders, syndromes and …
especially relevant for individuals with neurodevelopmental disorders, syndromes and …
[HTML][HTML] Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions
TA Lavelle, X Feng, M Keisler, JT Cohen… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and
genome sequencing (GS) for children. Methods We modeled costs, diagnoses, and quality …
genome sequencing (GS) for children. Methods We modeled costs, diagnoses, and quality …
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …
an understanding of who should be considered for testing and when it should be performed …