Regulation of Next Generation Sequencing

2014 ◽  
Vol 42 (S1) ◽  
pp. 9-21 ◽  
Author(s):  
Gail H. Javitt ◽  
Katherine Strong Carner
Keyword(s):  
Next Generation Sequencing ◽  
Human Genome ◽  
Genome Sequencing ◽  
Subsequent Development ◽  
Genome Project ◽  
Next Generation ◽  
Base Pairs ◽  
The Human Genome Project ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Since the first draft of the human genome was published in 2001, DNA sequencing technology has advanced at a remarkable pace. Launched in 1990, the Human Genome Project sought to sequence all three billion base pairs of the haploid human genome, an endeavor that took more than a decade and cost nearly three billion dollars. The subsequent development of so-called “next generation” sequencing (NGS) methods has raised the possibility that real-time, affordable genome sequencing will soon be widely available. Currently, NGS methods can be used to sequence up to 60 billion base pairs per day. Whole-genome sequencing costs an estimated $5,000-10,000, with that number predicted to fall to $1000 in the near future.In the past few years, the availability of high-throughput NGS methods has led to a proliferation of potential and actual clinical applications for NGS. NGS therefore has the potential to usher in the long-awaited era of personalized medicine.

scholarly journals Whole genome sequencing suggests transmission of Corynebacterium diphtheriae-caused cutaneous diphtheria in two siblings, Germany, 2018

2019 ◽  
Vol 24 (2) ◽  
Author(s):  
Anja Berger ◽  
Alexandra Dangel ◽  
Tilmann Schober ◽  
Birgit Schmidbauer ◽  
Regina Konrad ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Corynebacterium Diphtheriae ◽  
Whole Genome ◽  
Next Generation ◽  
Insect Bites ◽  
Next Generation Sequencing Ngs ◽  
Ngs Data ◽  
Generation Sequencing

In September 2018, a child who had returned from Somalia to Germany presented with cutaneous diphtheria by toxigenic Corynebacterium diphtheriae biovar mitis. The child’s sibling had superinfected insect bites harbouring also toxigenic C. diphtheriae. Next generation sequencing (NGS) revealed the same strain in both patients suggesting very recent human-to-human transmission. Epidemiological and NGS data suggest that the two cutaneous diphtheria cases constitute the first outbreak by toxigenic C. diphtheriae in Germany since the 1980s.

scholarly journals Next generation sequencing (NGS) in oncology: lights and shadows

2016 ◽  
Vol 4 (1) ◽  
pp. 17-19
Author(s):  
Margherita Nannini ◽  
Maria A. Pantaleo
Keyword(s):  
Next Generation Sequencing ◽  
Genome Sequencing ◽  
Next Generation ◽  
Coding Regions ◽  
Oncology Research ◽  
Potential Applications ◽  
Functional Consequences ◽  
Next Generation Sequencing Ngs ◽  
Tumor Genome ◽  
Generation Sequencing

Advances in tumor genome sequencing using next generation sequencing (NGS) technologies have facilitated a greater understanding of the genetic abnormalities involved in cancer development and progression, dramatically changing oncology research. There are several different types of NGS technologies. Whole genome sequencing (WGS) determines the sequence of the complete genome, providing information on both coding and non-coding regions and structural variants. However, use is limited by the large volume of data generated, and associated time and resource costs. Whole exome sequencing (WES) determines the sequence of coding regions only, making it faster and cheaper than WGS, and the functional consequences of variants are easier to interpret. However, all variations in non-coding regions are missed. WGS and WES are often used together to maximize detection of variants. A less costly approach is the use of targeted sequencing, which focuses on particular regions of interest, based on their biological relevance. NGS technologies can also be used to sequence RNA, referred to as RNA-Seq. All these NGS technologies, individually or in combination, have a number of potential applications, including identification of biomarkers, and development of diagnostic and therapeutic strategies. However, although advances have been made, there are a number of limitations to be overcome before NGS technologies are routinely applied in both research and clinical practice.

scholarly journals Next-Generation Sequence: A Review on Metagenomic Approach to Discovery of Novel Enzymes from the Soil Environment

2021 ◽  
pp. 10-19
Author(s):  
Rita-Cindy Aye-Ayire Sedjoah
Keyword(s):  
Next Generation Sequencing ◽  
Gene Clusters ◽  
Large Mass ◽  
Special Focus ◽  
Next Generation ◽  
Soil Environment ◽  
Base Pairs ◽  
Food Research ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Next-generation sequencing (NGS) makes a large mass of sequences. As a technology that allows the sequence of deoxyribonucleic acid (DNA) molecules larger than one million base pairs, it has been applied in the food research and medical fields. In the food sector, NGS has been used in food safety for the detection of species authenticity of food products and for mostly discovering novel industrial enzymes. The soil ecosystem houses a great number of non-culturable microbes thus novels enzymes can still be discovered to date. The conventional methods used in enzyme discovery have less chances to identify novel gene clusters and bioactivities.  Therefore, there is a dire need for high-throughput technology, together with advanced bioinformatics for the search of novel enzymes or biocatalysts from soil metagenomes. This review article thus gives a summary of the progress in the application of next-generation sequencing in the identification and characterization of novel enzymes with a special focus on enzymes from the soil environment.

scholarly journals The journey from next-generation sequencing to personalized medicine?

2021 ◽  
Author(s):  
Marion Vandeputte
Keyword(s):  
Next Generation Sequencing ◽  
Personalized Medicine ◽  
Genome Project ◽  
Next Generation ◽  
Sequencing Technology ◽  
Sequencing Technologies ◽  
Significant Step ◽  
The Human Genome Project ◽  
Generation Sequencing

Following the completion of the Human Genome Project in 2003, sequencing has become one of the most influential tools in biomedical research. Sequencing took off in earnest with the development of next-generation sequencing techniques in the early 2000s, making sequencing high throughput, faster, more affordable and commercially available to individual laboratories. With the improved understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, we are progressively unlocking the secrets of how our genes control the development of diseases. This has the potential to revolutionize medicine and healthcare, providing a significant step towards personalized medicine. How did we arrive here? What are the major achievements of sequencing technologies of the past two decades and how does it help us to piece the clues together towards personalized treatments and diagnosis?

Next Generation Sequencing in der medizinischen Versorgung – Stellen Zusatzbefunde und ihre potentiellen ökonomischen Implikationen eine Adoptionshürde dar?

2018 ◽  
Vol 24 (04) ◽  
pp. 197-208
Author(s):  
Susan Raths ◽  
Heiko Paland ◽  
Marit Buschke ◽  
Steffen Fleßa
Keyword(s):  
Next Generation Sequencing ◽  
Genome Sequencing ◽  
Next Generation ◽  
Whole Exome ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Zusammenfassung Ziel der Arbeit Ziel ist es, die Bedeutung des Next Generation Sequencing (NGS) und die Relevanz von Zusatzbefunden im derzeitigen klinischen Alltag zu bewerten. Dies soll eine Beurteilung erlauben, ob die ökonomischen Konsequenzen von Zusatzbefunden in der klinischen Routine einer Adoption von modernen Genanalysen entgegenstehen. Methodik Hierzu wurde eine Literaturrecherche sowie eine Online-Befragung unter Humangenetikern (n = 53) zur Relevanz von NGS-Methoden und Zusatzbefunden durchgeführt. Ergebnisse Whole Exome und Genome Sequencing (WES/WGS) werden bislang nur für ausgewählte Patientengruppen angewandt. Die Auftrittswahrscheinlichkeit von Zusatzbefunden wird nur von wenigen Publikationen thematisiert und hängt von der Filterstrategie der Rohdaten ab. Soweit keine ausdrückliche Suche nach Zusatzbefunden erfolgt, scheinen sie nicht gehäuft aufzutreten. Dies deckt sich mit den Angaben der deutschen Humangenetiker, wobei die Befragten zukünftig eine deutliche Zunahme von genetischen Analysen und Zusatzbefunden erwarten. Schlussfolgerung Umfassende Genanalysen sind bisher kein Massenphänomen in der Versorgung, sondern stellen eine frühe Mikroinnovation des Gesundheitswesens dar. Zusatzbefunde können durch fokussierte Auswertungsstrategien minimiert werden. Derzeit behindern (noch) vielfältige Herausforderungen und die teilweise fehlende Evidenz des Patientennutzens eine Übernahme als Standardlösung. Zusatzbefunde und ihre potentiellen Kosten spielen hingegen (noch) keine bedeutende Rolle im Adoptionsprozess dieser Versorgungsinnovation.

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