Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Item
http://www.wikidata.org/entity/Q47681796
Preparing for genomic medicine: a real world demonstration of health system change.Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.Prioritising the application of genomic medicine.Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.From public health genomics to precision public health: a 20-year journey.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.Incorporating epilepsy genetics into clinical practice: a 360°evaluation.CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?Economic evaluation of genomic sequencing in the paediatric population: a critical reviewGenetics of autosomal recessive intellectual disability
P2860

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Item
http://www.wikidata.org/entity/Q47681796
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年学术文章
@wuu
2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh
2017年學術文章
@zh-hant
name
Diagnostic Impact and Cost-eff ...... uspected Monogenic Conditions.
@en
Diagnostic Impact and Cost-eff ...... uspected Monogenic Conditions.
@nl
type
label
Diagnostic Impact and Cost-eff ...... uspected Monogenic Conditions.
@en
Diagnostic Impact and Cost-eff ...... uspected Monogenic Conditions.
@nl
prefLabel
Diagnostic Impact and Cost-eff ...... uspected Monogenic Conditions.
@en
Diagnostic Impact and Cost-eff ...... uspected Monogenic Conditions.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Diagnostic Impact and Cost-eff ...... Suspected Monogenic Conditions
@en
P2093
P2860
P304
P31
P356
10.1001/JAMAPEDIATRICS.2017.1755
P407
P433
P478
P50
P577
P698
P932