next-generation sequencing in the clinic promises and challenges pdf

Next-generation Sequencing In The Clinic Promises And Challenges Pdf

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The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

Thank you for visiting nature. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. Next-generation sequencing NGS of cancer genomes promises to revolutionise oncology, with the ability to design and use targeted drugs, to predict outcome and response, and to classify tumours. It is continually becoming cheaper, faster and more reliable, with the capability to identify rare yet clinically important somatic mutations.

Next-Generation Sequencing for the General Cancer Patient

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. The successes to date have been in single cases or in very small groups of patients.

In , the first massively parallel DNA sequencing platforms emerged, ushering in a new era of next-generation sequencing (NGS) [2,3]. To.

Next-Generation Sequencing Challenges

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.

We sought to: 1 provide an overview of the genomic epidemiology of an extensive collection of carbapenemase-producing bacteria CPB collected in the U. Department of Defense health system; 2 increase awareness of the public availability of the sequences, isolates, and customized antimicrobial resistance database of that system; and 3 illustrate challenges and offer mitigations for implementing next generation sequencing NGS across large health systems. Laboratory capacity, throughput, and response time were assessed. From through , 27, multidrug-resistant Gram-negative isolates were submitted. These were found in 15 species from inpatients in 19 facilities.

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.

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Dionisio S.

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


Sigfrido H.

Somak Roy, William A.


Connor S.

Eleanor Raffan, Robert K.


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