scholarly journals Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

2012 ◽  
Vol 4 (118) ◽  
pp. 118ra10-118ra10 ◽  
Author(s):  
S. E. Calvo ◽  
A. G. Compton ◽  
S. G. Hershman ◽  
S. C. Lim ◽  
D. S. Lieber ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Mitochondrial Disease ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

Targeted next-generation sequencing for molecular diagnosis of endometriosis-associated ovarian cancer

2016 ◽  
Vol 94 (7) ◽  
pp. 835-847 ◽  
Author(s):  
Tze-Kiong Er ◽  
Yu-Fa Su ◽  
Chun-Chieh Wu ◽  
Chih-Chieh Chen ◽  
Jing Wang ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

BMJ Open ◽  
2018 ◽  
Vol 8 (10) ◽  
pp. e021632 ◽  
Author(s):  
Juliette Bacquet ◽  
Tanya Stojkovic ◽  
Amandine Boyer ◽  
Nathalie Martini ◽  
Frédérique Audic ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Sanger Sequencing ◽  
Diagnostic Yield ◽  
Motor Neuropathy ◽  
Peripheral Neuropathies ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Targeted Ngs ◽  
Generation Sequencing

PurposeInherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy. We also describe several novel likely pathogenic variants.Design and participantsWe have completed the targeted NGS of 81 IPN genes in a cohort of 123 unrelated patients affected with diverse forms of IPNs, mostly Charcot-Marie-Tooth disease (CMT): 23% CMT1, 52% CMT2, 9% distal hereditary motor neuropathy, 7% hereditary sensory and autonomic neuropathy and 6.5% intermediate CMT.ResultsWe have solved the molecular diagnosis in 49 of 123 patients (~40%). Among the identified variants, 26 variants were already reported in the literature. In our cohort, the most frequently mutated genes are respectively:MFN2,SH3TC2,GDAP1,NEFL,GAN,KIF5AandAARS. Panel-based NGS was more efficient in familial cases than in sporadic cases (diagnostic yield 49%vs19%, respectively). NGS-based search for copy number variations, allowed the identification of three duplications in three patients and raised the diagnostic yield to 41%. This yield is two times higher than the one obtained previously by gene Sanger sequencing screening. The impact of panel-based NGS screening is particularly important for demyelinating CMT (CMT1) subtypes, for which the success rate reached 87% (36% only for axonal CMT2).ConclusionNGS allowed to identify causal mutations in a shorter and cost-effective time. Actually, targeted NGS is a well-suited strategy for efficient molecular diagnosis of IPNs. However, NGS leads to the identification of numerous variants of unknown significance, which interpretation requires interdisciplinary collaborations between molecular geneticists, clinicians and (neuro)pathologists.

scholarly journals Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Katsuhiro Hosono ◽  
Sachiko Nishina ◽  
Tadashi Yokoi ◽  
Satoshi Katagiri ◽  
Hirotomo Saitsu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Leber Congenital Amaurosis ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing for molecular diagnosis of Usher syndrome

2014 ◽  
Vol 9 (1) ◽  
Author(s):  
María J Aparisi ◽  
Elena Aller ◽  
Carla Fuster-García ◽  
Gema García-García ◽  
Regina Rodrigo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Usher Syndrome ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing
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