Identification of new familial pheochromocytoma/paraganglioma genes using next generation sequencing (NGS)

Background: Numerous sequencing techniques have been progressed since the 1960s with the rapid development of molecular biology studies focusing on DNA and RNA. Methods: a great number of articles, book chapters, websites are reviewed, and the studies covering NGS history, technology and applications to cancer therapy are included in the present article. Results: High throughput next-generation sequencing (NGS) technologies offer many advantages over classical Sanger sequencing with decreasing cost per base and increasing sequencing efficiency. NGS technologies are combined with bioinformatics software to sequence genomes to be used in diagnostics, transcriptomics, epidemiologic and clinical trials in biomedical sciences. The NGS technology has also been successfully used in drug discovery for the treatment of different cancer types. Conclusion: This review focuses on current and potential applications of NGS in various stages of drug discovery process, from target identification through to personalized medicine.

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Next-Generation Sequencing in Tumor Diagnosis and Treatment

Diagnostics ◽

10.3390/diagnostics10110962 ◽

2020 ◽

Vol 10 (11) ◽

pp. 962

Author(s):

Dario de Biase ◽

Matteo Fassan ◽

Umberto Malapelle

Keyword(s):

Next Generation Sequencing ◽

Tumor Diagnosis ◽

Diagnosis And Treatment ◽

Next Generation ◽

Multiple Genes ◽

Next Generation Sequencing Ngs ◽

Very High ◽

Generation Sequencing ◽

High Depth

Next-Generation Sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]

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Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis

Journal of International Medical Research ◽

10.1177/0300060520967778 ◽

2020 ◽

Vol 48 (12) ◽

pp. 030006052096777

Author(s):

Peisong Chen ◽

Xuegao Yu ◽

Hao Huang ◽

Wentao Zeng ◽

Xiaohong He ◽

...

Keyword(s):

Next Generation Sequencing ◽

Ion Torrent ◽

Next Generation ◽

Large Deletions ◽

Different Types ◽

Variant Detection ◽

Polymerase Chain ◽

Next Generation Sequencing Ngs ◽

Accuracy And Repeatability ◽

Generation Sequencing

Introduction To evaluate a next-generation sequencing (NGS) workflow in the screening and diagnosis of thalassemia. Methods In this prospective study, blood samples were obtained from people undergoing genetic screening for thalassemia at our centre in Guangzhou, China. Genomic DNA was polymerase chain reaction (PCR)-amplified and sequenced using the Ion Torrent system and results compared with traditional genetic analyses. Results Of the 359 subjects, 148 (41%) were confirmed to have thalassemia. Variant detection identified 35 different types including the most common. Identification of the mutational sites by NGS were consistent with those identified by Sanger sequencing and Gap-PCR. The sensitivity and specificities of the Ion Torrent NGS were 100%. In a separate test of 16 samples, results were consistent when repeated ten times. Conclusion Our NGS workflow based on the Ion Torrent sequencer was successful in the detection of large deletions and non-deletional defects in thalassemia with high accuracy and repeatability.

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Different Methods in HPV Genotyping of Anogenital and Oropharyngeal Lesions: Comparison between VisionArray® Technology, Next Generation Sequencing, and Hybrid Capture Assay

Journal of Molecular Pathology ◽

10.3390/jmp2010004 ◽

2021 ◽

Vol 2 (1) ◽

pp. 29-41

Author(s):

Giorgia Acquaviva ◽

Michela Visani ◽

Viviana Sanza ◽

Antonio De Leo ◽

Thais Maloberti ◽

...

Keyword(s):

Next Generation Sequencing ◽

Turnaround Time ◽

Hpv Infection ◽

Human Papillomaviruses ◽

Next Generation ◽

Hybrid Capture ◽

Capture Assay ◽

Anogenital Area ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

(1) Background: Human papillomaviruses (HPVs) are known to be related to the development of about 5% of all human cancers. The clinical relevance of HPV infection has been deeply investigated in carcinomas of the oropharyngeal area, uterine cervix, and anogenital area. To date, several different methods have been used for detecting HPV infection. The aim of the present study was to compare three different methods for the diagnosis of the presence of the HPV genome. (2) Methods: A total of 50 samples were analyzed. Twenty-five of them were tested using both next generation sequencing (NGS) and VisionArray® technology, the other 25 were tested using Hybrid Capture (HC) II assay and VisionArray® technology. (3) Results: A substantial agreement was obtained using NGS and VisionArray® (κ = 0.802), as well as between HC II and VisionArray® (κ = 0.606). In both analyses, the concordance increased if only high risk HPVs I(HR-HPVs) were considered as “positive”. (4) Conclusions: Our data highlighted the importance of technical choice in HPV characterization, which should be guided by the clinical aims, costs, starting material, and turnaround time for results.

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Mining and Development of Novel SSR Markers Using Next Generation Sequencing (NGS) Data in Plants

Molecules ◽

10.3390/molecules23020399 ◽

2018 ◽

Vol 23 (2) ◽

pp. 399 ◽

Cited By ~ 41

Author(s):

Sima Taheri ◽

Thohirah Lee Abdullah ◽

Mohd Yusop ◽

Mohamed Hanafi ◽

Mahbod Sahebi ◽

...

Keyword(s):

Next Generation Sequencing ◽

Ssr Markers ◽

Next Generation ◽

Next Generation Sequencing Ngs ◽

Ngs Data ◽

Generation Sequencing

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