High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

2015 ◽  
Vol 134 (9) ◽  
pp. 967-980 ◽  
Author(s):  
Tarunashree Yavarna ◽  
Nader Al-Dewik ◽  
Mariam Al-Mureikhi ◽  
Rehab Ali ◽  
Fatma Al-Mesaifri ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Middle Eastern ◽  
Mendelian Disorders ◽  
High Diagnostic Yield ◽  
Clinical Exome 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.

scholarly journals Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Aniko Sabo ◽  
David Murdock ◽  
Shannon Dugan ◽  
Qingchang Meng ◽  
Marie‐Claude Gingras ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Community Based ◽  
High Diagnostic Yield

scholarly journals Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

2019 ◽  
Vol 179 (6) ◽  
pp. 927-935 ◽  
Author(s):  
Nader Al‐Dewik ◽  
Howaida Mohd ◽  
Mariam Al‐Mureikhi ◽  
Rehab Ali ◽  
Fatma Al‐Mesaifri ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Middle Eastern ◽  
Mendelian Diseases ◽  
Clinical Exome Sequencing

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

2020 ◽  
Vol 139 (11) ◽  
pp. 1381-1390
Author(s):  
Frederic Tran Mau-Them ◽  
Sebastien Moutton ◽  
Caroline Racine ◽  
Antonio Vitobello ◽  
Ange-Line Bruel ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Developmental Disorders ◽  
Diagnostic Yield ◽  
Efficient Strategy ◽  
Clinical Exome Sequencing ◽  
Second Tier ◽  
Molecular Bases

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

2016 ◽  
Vol 91 (3) ◽  
pp. 386-402 ◽  
Author(s):  
Z. Fattahi ◽  
Z. Kalhor ◽  
M. Fadaee ◽  
R. Vazehan ◽  
E. Parsimehr ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Neuromuscular Disorders ◽  
Clinical Exome Sequencing

scholarly journals High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting

2015 ◽  
Vol 160 (2) ◽  
pp. 354-363.e9 ◽  
Author(s):  
Kristy Lee ◽  
Jonathan S. Berg ◽  
Laura Milko ◽  
Kristy Crooks ◽  
Mei Lu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Diagnostic Yield ◽  
High Diagnostic Yield ◽  
Retinal Dystrophies ◽  
Whole Exome
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