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Key Principles And Clinical Applications Of Next Generation Dna Sequencing Pdf

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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.

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.

Whole-genome sequencing. National Cancer Institute website. Accessed December 20, Genome Sequencing.

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. Knowledge of DNA sequences has become indispensable for basic biological research, and in numerous applied fields such as medical diagnosis , biotechnology , forensic biology , virology and biological systematics. Comparing healthy and mutated DNA sequences can diagnose different diseases including various cancers, [3] characterize antibody repertoire, [4] and can be used to guide patient treatment. The rapid speed of sequencing attained with modern DNA sequencing technology has been instrumental in the sequencing of complete DNA sequences, or genomes , of numerous types and species of life, including the human genome and other complete DNA sequences of many animal, plant, and microbial species. The first DNA sequences were obtained in the early s by academic researchers using laborious methods based on two-dimensional chromatography.

NGS vs. Sanger Sequencing

Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. DOI: Rizzo and M. Rizzo , M. Demand for fast, inexpensive, and accurate DNA sequencing data has led to the birth and dominance of a new generation of sequencing technologies. View on AACR.

Either your web browser doesn't support Javascript or it is currently turned off. In the latter case, please turn on Javascript support in your web browser and reload this page. Cancer Prevention Research Philadelphia, Pa. Read article at publisher's site DOI : PLoS One , 15 9 :e, 02 Sep

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

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.

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.

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

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