Next-generation sequencing: the dawn of a new era for preimplantation genetic diagnostics

AbstractOver the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major NGS technology companies providing commercially available instruments (Roche 454, Illumina, Life Technologies) have recently marketed bench top sequencing instruments with lower throughput and shorter run times, thereby broadening the applications of NGS and opening the technology to the potential use for clinical diagnostics. Although the high expectations regarding the discovery of new diagnostic targets and an overall reduction of cost have been achieved, technological challenges in instrument handling, robustness of the chemistry and data analysis need to be overcome. To facilitate the implementation of NGS as a routine method in molecular diagnostics, consistent quality standards need to be developed. Here the authors give an overview of the current standards in protocols and workflows and discuss possible approaches to define quality criteria for NGS in molecular genetic diagnostics.

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New Era for Next-Generation Sequencing in Japan

Cancers ◽

10.3390/cancers11060742 ◽

2019 ◽

Vol 11 (6) ◽

pp. 742 ◽

Cited By ~ 7

Author(s):

Masayuki Takeda ◽

Kazuko Sakai ◽

Takayuki Takahama ◽

Kazuya Fukuoka ◽

Kazuhiko Nakagawa ◽

...

Keyword(s):

Clinical Practice ◽

Next Generation Sequencing ◽

Solid Tumor ◽

Recent Progress ◽

Medical Curriculum ◽

Next Generation ◽

Multiple Cancer ◽

New Era ◽

Gene Panels ◽

Generation Sequencing

Recent progress in understanding the molecular basis of cancer—including the discovery of cancer-associated genes such as oncogenes and tumor suppressor genes—has suggested that cancer can become a treatable disease. The identification of driver oncogenes such as EGFR, ALK, ROS1, BRAF and HER2 has already been successfully translated into clinical practice for individuals with solid tumor. Next-generation sequencing (NGS) technologies have led to the ability to test for multiple cancer-related genes at once with a small amount of cells and tissues. In Japan, several hospitals have started NGS-based mutational profiling screening in patients with solid tumor in order to guide patients to relevant clinical trials. The Ministry of Health, Labor, and Welfare of Japan has also approved several cancer gene panels for use in clinical practice. However, there is an urgent need to develop a medical curriculum of clinical variant interpretation and reporting. We review recent progress in the implementation of NGS in Japan.

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Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies

Annals of Laboratory Medicine ◽

10.3343/alm.2019.39.6.515 ◽

2019 ◽

Vol 39 (6) ◽

pp. 515-523

Author(s):

Heyjin Kim ◽

Jae Won Yun ◽

Seung-Tae Lee ◽

Hee-Jin Kim ◽

Sun-Hee Kim ◽

...

Keyword(s):

Next Generation Sequencing ◽

Hematologic Malignancies ◽

Genetic Diagnostics ◽

Next Generation ◽

Somatic Variant ◽

Korean Society ◽

Variant Detection ◽

Generation Sequencing

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Molekuláris genetikai vizsgálatok primer immundefektusokban

Orvosi Hetilap ◽

10.1556/650.2018.31211 ◽

2018 ◽

Vol 159 (49) ◽

pp. 2095-2112

Author(s):

Melinda Erdős

Keyword(s):

Next Generation Sequencing ◽

Primary Immunodeficiency ◽

Molecular Genetic ◽

Primary Immunodeficiencies ◽

Genetic Diagnostics ◽

Next Generation ◽

Advantages And Disadvantages ◽

Whole Exome ◽

Molecular Genetic Diagnostics ◽

Generation Sequencing

Abstract: Next generation sequencing methods represent the latest era of molecular genetic diagnostics. After a general introduction on primary immunodeficiencies, the author summarizes the importance of molecular genetic studies, especially next generation sequencing in the diagnosis of primary immunodeficiencies. Another purpose of the manuscript is to give a brief summary on the methodological basis of next generation sequencing. The author analyzes the advantages and disadvantages of primary immunodeficiency gene-panel sequencing and whole-exome and whole-genome sequencing. Primary immunodeficiency genes and diseases recognized by next generation sequencing is also summarized. Finally, the author emphasizes the indispensability of gene level diagnostics in primary immunodeficiencies and presents the results achieved in this field in Hungary. Orv Hetil. 2018; 159(49): 2095–2112.

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Next generation sequencing technologies (NGST) development and applications

Orvosi Hetilap ◽

10.1556/oh.2011.29007 ◽

2011 ◽

Vol 152 (2) ◽

pp. 55-62 ◽

Cited By ~ 1

Author(s):

Zsuzsanna Mihály ◽

Balázs Győrffy

Keyword(s):

Next Generation Sequencing ◽

Dna Sequencing ◽

New Technology ◽

Objective Assessment ◽

Basic Research ◽

Next Generation ◽

New Era ◽

Sequencing Technologies ◽

Meta Analyses ◽

Generation Sequencing

In the past ten years the development of next generation sequencing technologies brought a new era in the field of quick and efficient DNA sequencing. In our study we give an overview of the methodological achievements from Sanger’s chain-termination sequencing in 1975 to those allowing real-time DNA sequencing today. Sequencing methods that utilize clonal amplicons for parallel multistrand sequencing comprise the basics of currently available next generation sequencing techniques. Nowadays next generation sequencing is mainly used for basic research in functional genomics, providing quintessential information in the meta-analyses of data from signal transduction pathways, onthologies, proteomics and metabolomics. Although next generation sequencing is yet sparsely used in clinical practice, cardiology, oncology and epidemiology already show an immense need for the additional knowledge obtained by this new technology. The main barrier of its spread is the lack of standardization of analysis evaluation methods, which obscure objective assessment of the results. Orv. Hetil., 2011, 152, 55–62.

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