NEXT-GENERATION SEQUENCING (NGS): OUR RESULTS OF MOLECULAR PATHOLOGY MALIGNANT SOLID TUMOR PANEL.

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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