The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

2018 ◽  
Vol 60 (2) ◽  
pp. 30-43 ◽  
Author(s):  
Hieu T. Nguyen ◽  
Huong T.T. Le ◽  
Liem T. Nguyen ◽  
Hu Lou ◽  
Thomas LaFramboise ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Genetic Diseases ◽  
Massive Parallel Sequencing ◽  
Next Generation ◽  
Parallel Sequencing ◽  
Generation Sequencing

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies

2017 ◽  
Vol 48 (04) ◽  
pp. 242-246 ◽  
Author(s):  
Simone Rost ◽  
Konstantin Kolokotronis ◽  
Gerhard Meng ◽  
Natalie Pluta ◽  
Clemens Müller-Reible ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Cost Effective ◽  
Massive Parallel Sequencing ◽  
Next Generation ◽  
Juvenile Onset ◽  
Parallel Sequencing ◽  
Copy Numbers ◽  
Cost Effective Method ◽  
Generation Sequencing ◽  
Variant Identification

AbstractThe practical basis for massive parallel sequencing is described to help clinicians in choosing the most adequate diagnostic approach for childhood myopathies. The key quality feature for massive parallel sequencing is the sequence depth (coverage) as a prerequisite for variant identification and quantification of sequence copy numbers. Our experience with a next-generation sequencing gene panel for the analysis of muscular dystrophies/myopathies with infantile or juvenile onset resulted in the identification of pathogenic or likely pathogenic mutations in approximately 41% (of 141 patients), thus leading to a definitive diagnosis. A subset of patients shows an accumulation of “excess” heterozygous variants that may act as modifiers of the phenotype. Massive parallel sequencing has become a reliable and cost-effective method, but it requires exact clinical, bioptic, and/or radiologic information to evaluate the clinical relevance of possibly pathologic variants.

Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases

2013 ◽  
pp. 287-299 ◽  
Author(s):  
Ephrem L. H. Chin ◽  
Victor Wei Zhang ◽  
Jing Wang ◽  
Margherita Milone ◽  
Susan Pacheco ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Clinical Utility ◽  
Genetic Diseases ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next-Generation Sequencing of Lung Cancer EGFR Exons 18-21 Allows Effective Molecular Diagnosis of Small Routine Samples (Cytology and Biopsy)

PLoS ONE ◽  
2013 ◽  
Vol 8 (12) ◽  
pp. e83607 ◽  
Author(s):  
Dario de Biase ◽  
Michela Visani ◽  
Umberto Malapelle ◽  
Francesca Simonato ◽  
Valentina Cesari ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Generation Sequencing
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