Illuminating the Black Box of Genome Sequence Assembly

2013 ◽  
Vol 75 (8) ◽  
pp. 572-577 ◽  
Author(s):  
D. Leland Taylor ◽  
A. Malcolm Campbell ◽  
Laurie J. Heyer

Next-generation sequencing technologies have greatly reduced the cost of sequencing genomes. With the current sequencing technology, a genome is broken into fragments and sequenced, producing millions of “reads.” A computer algorithm pieces these reads together in the genome assembly process. PHAST is a set of online modules (http://gcat.davidson.edu/phast) designed to teach advanced high school and college students the genome assembly process. PHAST allows users to assemble phage genomes in real time and includes tutorials detailing the complexities of genome assembly. With PHAST, students learn concepts behind genome assembly and understand how mathematics solves biological problems such as genome assembly.

2021 ◽  
Author(s):  
Marion Vandeputte

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?


2021 ◽  
Author(s):  
Louise Aigrain

Since the publication of the first draft of the human genome 20 years ago, several novel sequencing technologies have emerged. Whilst some drive the cost of DNA sequencing down, others address the difficult parts of the genome which remained inaccessible so far. But the next-generation sequencing (NGS) landscape is a fast-changing environment and one can easily get lost between second- and third- generation sequencers, or the pros and cons of short- versus long-read technologies. In this beginner’s guide to NGS, we will review the main NGS technologies available in 2021. We will compare sample preparation protocols and sequencing methods, highlighting the requirements and advantages of each technology.


2014 ◽  
Vol 42 (S1) ◽  
pp. 5-8 ◽  
Author(s):  
David Kaufman ◽  
Margaret Curnutte ◽  
Amy L. McGuire

In 1996, President Clinton offered a promissory vision for human genetics when he said: “I think it won't be too many years before parents will be able to go home from the hospital with their newborn babies with a genetic map in their hands that will tell them, here's what your child's future will likely be like.”The rapid evolution of genetic sequencing technologies has advanced that vision. In October 2006, the cost of sequencing an entire human genome was $10.4 million; by 2014 the cost had decreased a thousand fold. The term next generation sequencing (NGS) describes a variety of laboratory methods that allow efficient determination of the precise order of nucleotides in a DNA sequence. The papers in this issue of the Journal of Law, Medicine & Ethics focus on “clinical NGS,” which refers to rapid DNA sequencing using second-, third- and fourth-generation sequencing technologies to perform genome-wide sequencing of multiple genes or alleles for clinical prognostic, diagnostic, and therapeutic purposes.


2019 ◽  
Vol 3 (1) ◽  
pp. 1
Author(s):  
Roxana Guillen

Sequencing technologies have suffered over the last few years improvements in its performance, Next-generation Sequencing is being used more frequently to control infectious diseases, to know and anticipate antimicrobial resistance (AMR) and in surveillance controls against possible infectious outbreaks. Molecular assays used to detect pathogenic or antibiotic resistant agents take a lot of time and effort, and often enough information is not collected to make decisions. Next- generation sequencing appears to elucidate in the least time possible the whole DNA sequence and provide us with enough data to know resistance, virulence and typing that can be analyzed and a great help in research and decision making. NGS is a very promising technology, in order for it to be used extensively, requires the development of data analysis platforms and reduction of trials costs that still is very high for a massive use.


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