[HTML][HTML] Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
Purpose We conducted a systematic literature review to summarize the current health
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
economic evidence for whole-exome sequencing (WES) and whole-genome sequencing …
Review of clinical next-generation sequencing
S Yohe, B Thyagarajan - Archives of pathology & …, 2017 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
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 …
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort
JD Symonds, SM Zuberi, K Stewart, A McLellan… - Brain, 2019 - academic.oup.com
Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …
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 …
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Purpose: To prospectively evaluate the diagnostic and clinical utility of singleton whole-
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
exome sequencing (WES) as a first-tier test in infants with suspected monogenic disease …
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 …
Insights into genetics, human biology and disease gleaned from family based genomic studies
Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …
conditions informs biology and medicine, yet potential phenotypic consequences for …
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
EVIDENCE, an automated variant prioritization system, has been developed to facilitate
whole exome sequencing analyses. This study investigated the diagnostic yield of …
whole exome sequencing analyses. This study investigated the diagnostic yield of …
Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement
Purpose: To undertake the first prospective cost-effectiveness study of whole-exome
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …
sequencing (WES) as an early, routine clinical test for infants with suspected monogenic …