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Key Principles And Clinical Applications Of Next Generation Dna Sequencing Pdf

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Whole-genome sequencing. National Cancer Institute website.

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Next-generation sequencing NGS technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. The relatively fast emergence and success of NGS in research revolutionized the field of genomics and medical diagnosis. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. This chapter attempts to review the main features of NGS technique concepts, data analysis, applications, advances and challenges , starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. The potential use of NGS in precision medicine is vast and a better knowledge of this technique is necessary for an efficacious implementation in the clinical workplace.

NGS vs. Sanger Sequencing

In principle, the concepts behind Sanger vs. In both NGS and Sanger sequencing also known as dideoxy or capillary electrophoresis sequencing , DNA polymerase adds fluorescent nucleotides one by one onto a growing DNA template strand. Each incorporated nucleotide is identified by its fluorescent tag. The critical difference between Sanger sequencing and NGS is sequencing volume. While the Sanger method only sequences a single DNA fragment at a time, NGS is massively parallel, sequencing millions of fragments simultaneously per run.

DNA sequencing

Metrics details. Over the past decade, next-generation sequencing NGS has led to an exponential increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for the analysis of multiple regions of the genome in one single reaction and has been shown to be a cost-effective and efficient tool in investigating patients with Mendelian diseases. However, recommendations on clinical implementation of NGS are still evolving with numerous key challenges that impede the widespread use of genetics in everyday medicine. These challenges include when to order, on whom to order, what type of test to order, and how to interpret and communicate the results, including incidental findings, to the patient and family. In this review, we discuss these challenges and suggest guidelines on implementing NGS in the routine clinical workflow. Mendelian diseases, also known as monogenic diseases, are disorders caused by mutations in one gene and include diseases like thalassemia, cystic fibrosis, among others.

Next-generation sequencing NGS is the catch all terms that used to explain several different modern sequencing technologies which let us to sequence nucleic acids much more rapidly and cheaply than the formerly used Sanger sequencing, and as such have revolutionized the study of molecular biology and genomics with excellent resolution and accuracy. Over the past years, many academic companies and institutions have continued technological advances to expand NGS applications from research to the clinic. In this review, the performance and technical features of current NGS platforms were described. Furthermore, advances in the applying of NGS technologies towards the progress of clinical molecular diagnostics were emphasized. General advantages and disadvantages of each sequencing system are summarized and compared to guide the selection of NGS platforms for specific research aims. Moreover, it was reasonable that the data originated from the genome would result in the development of diagnostic tools, novel therapies and more ability to predict the onset, severity as well as diseases progression 1. This sequencing technology uses a specific primer to start the read at a specific location along the DNA template, and record the different labels for each nucleotide within the sequence.

Clinical Genomics provides an overview of the various next-generation sequencing NGS technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Clinical Genomicists, Molecular Pathologists, molecular Geneticists, clinical Cytogeneticists, Clinical Geneticists, Primary Care Physicians including Oncologists, Pediatricians, Neurologists, Cardiologists, and Neonatologists and Genetic Counselors seeking to use or interpret Next Gen Sequencing in the diagnosis, prognosis, and management of inherited and somatic disorders in the era of precision medicine.

Next-Generation Sequencing: Principles for Clinical Application

DNA sequencing is the process of determining the nucleic acid sequence — the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine , guanine , cytosine , and thymine. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery.

With the development and improvement of new sequencing technology, next-generation sequencing NGS has been applied increasingly in cancer genomics research over the past decade. More recently, NGS has been adopted in clinical oncology to advance personalized treatment of cancer. NGS is used to identify novel and rare cancer mutations, detect familial cancer mutation carriers, and provide molecular rationale for appropriate targeted therapy. Compared to traditional sequencing, NGS holds many advantages, such as the ability to fully sequence all types of mutations for a large number of genes hundreds to thousands in a single test at a relatively low cost.

Molecular Pathology in Clinical Practice pp Cite as. Next-generation sequencing NGS is not a single technology, but rather several different technologies that share a common feature of massively parallel sequencing of clonally amplified or single DNA molecules in a flow cell or chip. Inherent to NGS technologies are unique sequencing chemistries that differ from the Sanger dideoxynucleotide chain termination chemistry. NGS can generate, in a single instrument run, hundreds of millions to gigabases of nucleotide sequence data depending upon platform configuration, chemistry, and flow cell or chip capacity. This chapter describes principles of NGS and considerations for its application to clinical molecular tests.

NGS vs. Sanger Sequencing

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Next-generation sequencing NGS technologies have greatly impacted on every field of molecular research mainly because they reduce costs and increase throughput of DNA sequencing. These approaches are now widely used in research, and they are already being used in routine molecular diagnostics. However, some issues are still controversial, namely, standardization of methods, data analysis and storage, and ethical aspects. Besides providing an overview of the NGS-based approaches most frequently used to study the molecular basis of human diseases at DNA level, we discuss the principal challenges and applications of NGS in the field of human genomics. DNA sequencing is the process of determining the exact order of the nucleotides in a DNA segment, corresponding to single gene s or to a variety of molecules in the case of the whole genome, or a large part of it.

Key principles and clinical applications of

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Key Principles and Clinical Applications of “Next-Generation” DNA Sequencing

3 Comments

Lothair C. 09.06.2021 at 04:49

The sequencing of the human genome was completed in , after 13 years of international collaboration and investment of USD 3 billion.

GeneviГЁve G. 12.06.2021 at 17:48

Despite opening new frontiers of genomics research, the fundamental shift away from the Sanger sequencing that next-generation technologies has created has.

Temphongrunsnouv 13.06.2021 at 12:06

Request PDF | Key Principles and Clinical Applications of "Next-Generation" DNA Sequencing | Demand for fast, inexpensive, and accurate.

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