scholarly journals Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability

2020 ◽  
Vol 63 (6) ◽  
pp. 211-212 ◽  
Author(s):  
Jon Soo Kim
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Developmental Delay ◽  
Diagnostic Yield ◽  
Global Developmental Delay ◽  
Powerful Method ◽  
Next Generation ◽  
Generation Sequencing

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

2016 ◽  
Vol 54 (2) ◽  
pp. 87-92 ◽  
Author(s):  
Francisco Martínez ◽  
Alfonso Caro-Llopis ◽  
Mónica Roselló ◽  
Silvestre Oltra ◽  
Sonia Mayo ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Diagnostic Yield ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
High Diagnostic Yield ◽  
Generation Sequencing

scholarly journals Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability

2020 ◽  
Vol 63 (6) ◽  
pp. 195-202 ◽  
Author(s):  
Ji Yoon Han ◽  
In Goo Lee
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Developmental Delay ◽  
Best Practice ◽  
Molecular Genetic ◽  
Next Generation ◽  
Panel Testing ◽  
Prediction Of Prognosis ◽  
Generation Sequencing

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene panel, whole-exome sequencing (WES), and whole-genome sequencing (WGS) for DD/ID need prospective analyses of the increasing cost-effectiveness versus conventional genetic testing. Choosing the appropriate sequencing method requires individual planning. Data are required to guide best-practice recommendations for genomic testing, regarding various clinical phenotypes in an etiologic approach. Targeted panel testing may be recommended as a first-tier testing approach for children with DD/ID. Family-based trio testing by WES/WGS can be used as a second test for DD/ ID in undiagnosed children who previously tested negative on a targeted panel. The role of NGS in molecular diagnostics, treatment, prediction of prognosis will continue to increase further in the coming years. Given the rapid pace of changes in the past 10 years, all medical providers should be aware of the changes in the transformative genetics field.

scholarly journals Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients

2021 ◽  
Author(s):  
Mohamed Z. Alimohamed ◽  
LennartF. Johansson ◽  
Anna Posafalvi ◽  
Ludolf G. Boven ◽  
Krista K. van Dijk ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Diagnostic Yield ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing Gene Panels and “Solo” Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses

2021 ◽  
pp. 1-11
Author(s):  
Montse Pauta ◽  
Berta Campos ◽  
Maria Segura-Puimedon ◽  
Gemma Arca ◽  
Alfons Nadal ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Monogenic Disease ◽  
Chromosomal Microarray Analysis ◽  
Next Generation ◽  
Clinical Exome Sequencing ◽  
Gene Panels ◽  
Generation Sequencing ◽  
Structural Anomalies

<b><i>Objective:</i></b> The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and “solo” clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. <b><i>Methodology:</i></b> Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. <b><i>Results:</i></b> During the study period (2015–2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. <b><i>Conclusions:</i></b> A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.

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