scholarly journals Discovery of novel mutations for clarithromycin resistance in Helicobacter pylori by using next-generation sequencing

2014 ◽  
Vol 69 (7) ◽  
pp. 1796-1803 ◽  
Author(s):  
Tran Thanh Binh ◽  
Seiji Shiota ◽  
Rumiko Suzuki ◽  
Miyuki Matsuda ◽  
Tran Thi Huyen Trang ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Novel Mutations ◽  
Clarithromycin Resistance ◽  
Generation Sequencing

scholarly journals Targeted next generation sequencing identifies novel mutations in Indian patients with retinal dystrophies

2017 ◽  
Vol 1 (Special Issue) ◽  
pp. 91-91
Author(s):  
Rajeshwari Patil ◽  
Poornachandra Poornachandra ◽  
Nallathambi Jeyabalan ◽  
Arkasubhra Ghosh ◽  
Anuprita Ghosh
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Novel Mutations ◽  
Targeted Next Generation Sequencing ◽  
Retinal Dystrophies ◽  
Indian Patients ◽  
Generation Sequencing

scholarly journals Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

Genes ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 1047 ◽  
Author(s):  
Lama Jaffal ◽  
Wissam H Joumaa ◽  
Alexandre Assi ◽  
Charles Helou ◽  
George Cherfan ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Usher Syndrome ◽  
Bioinformatic Analysis ◽  
Next Generation ◽  
Novel Mutations ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Targeted Ngs ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Aim: To identify disease-causing mutations in four Lebanese families: three families with Bardet–Biedl and one family with Usher syndrome (BBS and USH respectively), using next generation sequencing (NGS). Methods: We applied targeted NGS in two families and whole exome sequencing (WES) in two other families. Pathogenicity of candidate mutations was evaluated according to frequency, conservation, in silico prediction tools, segregation with disease, and compatibility with inheritance pattern. The presence of pathogenic variants was confirmed via Sanger sequencing followed by segregation analysis. Results: Most likely disease-causing mutations were identified in all included patients. In BBS patients, we found (M1): c.2258A > T, p. (Glu753Val) in BBS9, (M2): c.68T > C; p. (Leu23Pro) in ARL6, (M3): c.265_266delTT; p. (Leu89Valfs*11) and (M4): c.880T > G; p. (Tyr294Asp) in BBS12. A previously known variant (M5): c.551A > G; p. (Asp184Ser) was also detected in BBS5. In the USH patient, we found (M6): c.188A > C, p. (Tyr63Ser) in CLRN1. M2, M3, M4, and M6 were novel. All of the candidate mutations were shown to be likely disease-causing through our bioinformatic analysis. They also segregated with the corresponding phenotype in available family members. Conclusion: This study expanded the mutational spectrum and showed the genetic diversity of BBS and USH. It also spotlighted the efficiency of NGS techniques in revealing mutations underlying clinically and genetically heterogeneous disorders.

Next-generation sequencing in pancreatic cancer: Novel mutations and potential targets for therapy.

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. e15228-e15228
Author(s):  
Andrea S. Teague ◽  
Benjamin R. Tan ◽  
Joel Picus ◽  
Albert C. Lockhart ◽  
Steven Sorscher ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Novel Mutations ◽  
Generation Sequencing

Novel mutations in sporadic typical carcinoids of the lung (lung-TC): Tumor genomic profile by next generation sequencing (NGS).

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. 11596-11596
Author(s):  
Ivana GABRIELA Sullivan ◽  
Ludovic Lacroix ◽  
Julien Adam ◽  
Aurelie Honore ◽  
Nicolas Dorvault ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genomic Profile ◽  
Next Generation ◽  
Novel Mutations ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing
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