next-generation sequencing in the clinic promises and challenges pdf

Next-generation sequencing in the clinic promises and challenges pdf

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Published: 30.05.2021

Introduction and background

GENERAL SCHEMA OF BIOINFORMATICS WORKFLOW FOR PROCESSING NGS DATA

SEQUENCING TECHNOLOGIES: EVOLUTION AND CURRENT STATE

Introduction and background

Abstract: Next-generation sequencing is a novel method of DNA sequencing that has become a cornerstone of precision oncology. This sequencing method detects differences in specific DNA sequences between a sample and a reference genome or matched normal DNA. In addition to single-nucleotide variants, other insertions, deletions, copy number changes, and fusions may be drivers of cancer growth, and thus represent therapeutic opportunities. As a result, genomic characterization has been increasingly used to guide treatment decisions, especially in patients with advanced disease. This review discusses the basic technologies involved in next-generation sequencing, the applications of this method, and limitations in the clinical realm.

GENERAL SCHEMA OF BIOINFORMATICS WORKFLOW FOR PROCESSING NGS DATA

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.


However, the ever-increasing pace of NGS adoption presents enormous challenges in terms of data processing, storage, management and.


SEQUENCING TECHNOLOGIES: EVOLUTION AND CURRENT STATE

Analyses based on next-generation sequencing include whole-genome sequencing and whole-exome sequencing; DNA sequences that encode proteins are collectively known as the exome. In some instances, whole genome and whole-exome sequencing have already helped to accurately diagnose diseases with atypical manifestations, that are difficult to diagnose using clinical or laboratory criteria alone, or that otherwise require extensive or costly evaluation. For some patients with malignant neoplasms, next-generating sequencing can improve tumor classification, diagnosis, and management. Many challenges remain, however, such as the storage and interpretation of vast amounts of sequence data, training physicians and other health care professionals whose knowledge of genetics may be insufficient, effective genetic counseling and communication of results to patients, and establishing standards for the appropriate use of the technology. Rigorous studies are needed to assess the utility of whole-genome and whole-exome sequencing in large groups of patients, including comparative studies with other approaches to screening and diagnosis, and the evaluation of clinical end points and health care costs.

Next-Generation Sequencing for the General Cancer Patient

Over the past 10 years, next-generation sequencing NGS has grown by leaps and bounds. With well over 10, instruments installed around the world, we face a paradox: the current generation and the next generation are one and the same. The major platform companies have spent the past couple of years focusing on improving ease-of-use.

2 comments

  • Alfonsa B. 03.06.2021 at 10:17

    Somak Roy, William A.

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  • Andrea C. 05.06.2021 at 23:28

    Eleanor Raffan, Robert K.

    Reply

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