scholarly journals Assuring the Quality of Next-Generation Sequencing in Clinical Microbiology and Public Health Laboratories

2016 ◽  
Vol 54 (12) ◽  
pp. 2857-2865 ◽  
Author(s):  
Amy S. Gargis ◽  
Lisa Kalman ◽  
Ira M. Lubin
Keyword(s):  
Public Health ◽  
Next Generation Sequencing ◽  
Clinical Microbiology ◽  
Next Generation ◽  
Standards And Guidelines ◽  
Control Procedures ◽  
Next Generation Sequencing Ngs ◽  
Professional Guidelines ◽  
Generation Sequencing

Clinical microbiology and public health laboratories are beginning to utilize next-generation sequencing (NGS) for a range of applications. This technology has the potential to transform the field by providing approaches that will complement, or even replace, many conventional laboratory tests. While the benefits of NGS are significant, the complexities of these assays require an evolving set of standards to ensure testing quality. Regulatory and accreditation requirements, professional guidelines, and best practices that help ensure the quality of NGS-based tests are emerging. This review highlights currently available standards and guidelines for the implementation of NGS in the clinical and public health laboratory setting, and it includes considerations for NGS test validation, quality control procedures, proficiency testing, and reference materials.

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

2018 ◽  
Vol 31 (12) ◽  
pp. 1295-1304 ◽  
Author(s):  
Taha R. Özdemir ◽  
Özgür Kırbıyık ◽  
Bumin N. Dündar ◽  
Ayhan Abacı ◽  
Özge Ö. Kaya ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Maturity Onset Diabetes ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants ◽  
Onset Diabetes ◽  
Frequent Mutations ◽  
Standards And Guidelines ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic diabetes. Fourteen genes have been identified, each leading to cause a different type of MODY. The aims of this study were to reveal both known and novel variants in MODY genes in patients with MODY using targeted next generation sequencing (NGS) and to present the genotype-phenotype correlations. Methods Mutation analysis of MODY genes (GCK, HNF1A, HNF4A, HNF1B, ABCC8, INS and KCNJ11) was performed using targeted NGS in 106 patients with a clinical diagnosis of MODY. The variants were evaluated according to American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines recommendations. Results A total of 18 (17%) variants were revealed among all patients. Seven variants in GCK, six in HNF4A, four in HNF1A and one in ABCC8 genes were found. Eight of them were previously published and 10 of them were assessed as novel pathogenic or likely pathogenic variants. Conclusions While the most frequent mutations are found in the HNF1A gene in the literature, most of the variants were found in the GCK gene in our patient group using the NGS method, which allows simultaneous analysis of multiple genes in a single panel.

scholarly journals Precision Medicine and Precision Public Health in the Era of Pathogen Next-Generation Sequencing

2019 ◽  
Vol 221 (Supplement_3) ◽  
pp. S289-S291 ◽  
Author(s):  
Mariana Leguia ◽  
Anton Vila-Sanjurjo ◽  
Patrick S G Chain ◽  
Irina Maljkovic Berry ◽  
Richard G Jarman ◽  
...  
Keyword(s):  
Public Health ◽  
Next Generation Sequencing ◽  
Infectious Diseases ◽  
Next Generation ◽  
The Past ◽  
Infectious Disease Research ◽  
History Of ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Health Applications

Abstract This brief report serves as an introduction to a supplement of the Journal of Infectious Diseases entitled “Next-Generation Sequencing (NGS) Technologies to Advance Global Infectious Disease Research.” We briefly discuss the history of NGS technologies and describe how the techniques developed during the past 40 years have impacted our understanding of infectious diseases. Our focus is on the application of NGS in the context of pathogen genomics. Beyond obvious clinical and public health applications, we also discuss the challenges that still remain within this rapidly evolving field.

scholarly journals Review of Clinical Next-Generation Sequencing

2017 ◽  
Vol 141 (11) ◽  
pp. 1544-1557 ◽  
Author(s):  
Sophia Yohe ◽  
Bharat Thyagarajan
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Care ◽  
Cost Effective ◽  
Next Generation ◽  
Inherited Disorders ◽  
Academic Center ◽  
Next Generation Sequencing Ngs ◽  
Ngs Data ◽  
Generation Sequencing

Context.— Next-generation sequencing (NGS) is a technology being used by many laboratories to test for inherited disorders and tumor mutations. This technology is new for many practicing pathologists, who may not be familiar with the uses, methodology, and limitations of NGS. Objective.— To familiarize pathologists with several aspects of NGS, including current and expanding uses; methodology including wet bench aspects, bioinformatics, and interpretation; validation and proficiency; limitations; and issues related to the integration of NGS data into patient care. Data Sources.— The review is based on peer-reviewed literature and personal experience using NGS in a clinical setting at a major academic center. Conclusions.— The clinical applications of NGS will increase as the technology, bioinformatics, and resources evolve to address the limitations and improve quality of results. The challenge for clinical laboratories is to ensure testing is clinically relevant, cost-effective, and can be integrated into clinical care.

scholarly journals Next-Generation Sequencing: A Critical Review of Its Applications in Clinical Microbiology

2020 ◽  
Vol 1 (1) ◽  
pp. 1-5
Author(s):  
Shuaibu Abdullahi Hudu ◽  
Saadatu Haruna Shinkafi ◽  
Shuaibu Umar ◽  
Babazhitsu Makun ◽  
Khadijah Muhammad Dada
Keyword(s):  
Public Health ◽  
Next Generation Sequencing ◽  
Clinical Microbiology ◽  
Diagnostic Procedures ◽  
Distinct Advantage ◽  
Next Generation ◽  
Genomic Changes ◽  
Diagnostic Microbiology ◽  
Personalized Cancer ◽  
Generation Sequencing

Next-generation sequencing (NGS) technology is fast supplementing and improving the current conventional sequencing. This is as a result of its ability to sequence pathogen genomes and interpret the information in near real-time. The aim of this paper is to review the applications of next-generation sequencing in clinical microbiology. With the speedy advances in NGS innovations, clinical and public health microbiology labs are progressively accepting NGS innovation in their workflows into their diagnostic procedures. In this review, it has been found that the applications of NGS in the clinical and public health microbiology settings are not disposable, and have the potential to guide clinicians in tailoring treatment to dynamic genomic changes of microbes. Next-generation sequencing has opened a broad new area of research with the potential to revolutionize personalized cancer medicine. Advances in NGS have demonstrated a distinct advantage in diagnostic microbiology, fundamentally lessening the time from diagnosis to clinical treatment.

scholarly journals Next-generation sequencing (NGS) methods and their application in clinical microbiology, infectology and epidemiology

2021 ◽  
Vol 18 (4) ◽  
pp. 26-32
Author(s):  
V. M. Mitsura
Keyword(s):  
Next Generation Sequencing ◽  
Personalized Medicine ◽  
Infectious Diseases ◽  
Medical Research ◽  
Clinical Microbiology ◽  
Next Generation ◽  
Basic Principles ◽  
Treatment And Prevention ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

This review presents basic principles and methods of next-generation sequencing (NGS) and discusses a number of the latest papers on the possibilities, principles and stages of NGS, as well as the application of NGS in medical research, particularly, clinical microbiology and infectious diseases, epidemiology. The development of NGS technologies will allow improving the results of diagnostics, treatment and prevention of infectious diseases and opens up new prospects for personalized medicine.

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