scholarly journals Next generation sequencing

Author(s):  
Elsbeth Bösl ◽  
Stefanie Samida

Next Generation Sequencing led to major knowledge gains in the molecular life sciences. But the new technology provides data that pose new challenges to both science and society. New fields of research are emerging and questions of identity on the basis of genetic analyses are being negotiated.

Author(s):  
Elsbeth Bösl ◽  
Stefanie Samida

Today, DNA sequencing is part of the standard repertoire of biological and medical research. Next generation sequencing (NGS), established around the mid-2000s, was the main catalyst for this development. NGS has led to major knowledge gains in the molecular life sciences. However, the new technology provides data that pose new challenges that both science and society still must learn to deal with. A technology-driven dynamic can already be observed in this field, leading to transformation processes in science, where new fields of research are emerging, but also in society, where questions of identity are increasingly being negotiated based on genetic analyses.


2017 ◽  
Vol 13 (7S_Part_6) ◽  
pp. P305-P305
Author(s):  
Vo Van Giau ◽  
Eva Bagyinszky ◽  
Kyu Hwan Shim ◽  
Youngsoon Yang ◽  
Young Chul Youn ◽  
...  

2011 ◽  
Vol 152 (2) ◽  
pp. 55-62 ◽  
Author(s):  
Zsuzsanna Mihály ◽  
Balázs Győrffy

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.


2011 ◽  
Vol 72 ◽  
pp. S136 ◽  
Author(s):  
Bryan N. Hoglund ◽  
Cherie L. Holcomb ◽  
Priscilla V. Moonsamy ◽  
Damian Goodridge ◽  
Henry A. Erlich

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Tiancheng Liu ◽  
Lin Yu ◽  
Lei Liu ◽  
Hong Li ◽  
Yixue Li

High throughput technology has prompted the progressive omics studies, including genomics and transcriptomics. We have reviewed the improvement of comparative omic studies, which are attributed to the high throughput measurement of next generation sequencing technology. Comparative genomics have been successfully applied to evolution analysis while comparative transcriptomics are adopted in comparison of expression profile from two subjects by differential expression or differential coexpression, which enables their application in evolutionary developmental biology (EVO-DEVO) studies. EVO-DEVO studies focus on the evolutionary pressure affecting the morphogenesis of development and previous works have been conducted to illustrate the most conserved stages during embryonic development. Old measurements of these studies are based on the morphological similarity from macro view and new technology enables the micro detection of similarity in molecular mechanism. Evolutionary model of embryo development, which includes the “funnel-like” model and the “hourglass” model, has been evaluated by combination of these new comparative transcriptomic methods with prior comparative genomic information. Although the technology has promoted the EVO-DEVO studies into a new era, technological and material limitation still exist and further investigations require more subtle study design and procedure.


2020 ◽  
Author(s):  
João R. Almeida ◽  
Armando J. Pinho ◽  
José L. Oliveira ◽  
Olga Fajarda ◽  
Diogo Pratas

AbstractSummaryNext-generation sequencing triggered the production of a massive volume of publicly available data and the development of new specialised tools. These tools are dispersed over different frameworks, making the management and analyses of the data a challenging task. Additionally, new targeted tools are needed, given the dynamics and specificities of the field. We present GTO, a comprehensive toolkit designed to unify pipelines in genomic and proteomic research, which combines specialised tools for analysis, simulation, compression, development, visualisation, and transformation of the data. This toolkit combines novel tools with a modular architecture, being an excellent platform for experimental scientists, as well as a useful resource for teaching bioinformatics inquiry to students in life sciences.Availability and implementationGTO is implemented in C language and it is available, under the MIT license, at http://bioinformatics.ua.pt/[email protected] informationSupplementary data are available at publisher’s Web site.


Author(s):  
Afzal Hussain

Next-generation sequencing or massively parallel sequencing describe DNA sequencing, RNA sequencing, or methylation sequencing, which shows its great impact on the life sciences. The recent advances of these parallel sequencing for the generation of huge amounts of data in a very short period of time as well as reducing the computing cost for the same. It plays a major role in the gene expression profiling, chromosome counting, finding out the epigenetic changes, and enabling the future of personalized medicine. Here the authors describe the NGS technologies and its application as well as applying different tools such as TopHat, Bowtie, Cufflinks, Cuffmerge, Cuffdiff for analyzing the high throughput RNA sequencing (RNA-Seq) data.


2018 ◽  
Vol 21 (1) ◽  
pp. 73-76 ◽  
Author(s):  
U Fahrioğlu

Abstract Dear Editor Next generation sequencing (NGS) has changed the way we approach the diagnosis, prognosis and treatment of genetic disorders. It gave us base pair (bp) precision, multi-gene approach that can be executed in a timely and cost-effective manner. Despite some minor technical issues in NGS, it comes with great advantages. However, the clinical, and especially, genetic counseling profession will need to rise to the challenge to face some of the new issues, dilemmas and problems this new technology is bringing to the table. Some of the counseling guidelines predate the NGS era and will urgently need to be brought up to par with the technology.


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