Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases

2012 ◽  
pp. 19-45 ◽  
Author(s):  
Wei Zhang ◽  
Hong Cui ◽  
Lee-Jun C. Wong
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Next Generation ◽  
Inherited Diseases ◽  
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

D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders

2012 ◽  
Vol 22 (9-10) ◽  
pp. 807-808
Author(s):  
I. Nelson ◽  
V. Allamand ◽  
R. Ben Yaou ◽  
S. Baulande ◽  
A. Criqui ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Molecular Diagnosis ◽  
Neuromuscular Disorders ◽  
Next Generation ◽  
Dna Capture ◽  
Generation Sequencing

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
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