With the rapid advances in next generation sequencing (NGS) technologies, clinical and public health microbiology laboratories are increasingly adopting NGS technology in their workflows into their existing diagnostic cycles. In this bacteriology focused review, we review aspects and considerations for applying NGS in the clinical microbiology settings, and highlight the impact of such implemen...

Despite its successful use in academic research, next-generation sequencing (NGS) still represents many challenges for routine clinical adoption due to its inherent complexity and specialised expertise typically required to set-up, test and operate a complete workflow.This study aims to evaluate QIAGEN's newly launched GeneReader NGS System solution in a pathology laboratory setting by assessin...

The advent of next-generation sequencing (NGS) has revolutionised public health microbiology. Given the potential impact of NGS, it is paramount to ensure standardisation of 'wet' laboratory and bioinformatic protocols and promote comparability of methods employed by different laboratories and their outputs. Therefore, one of the ambitious goals of the Global Microbial Identifier (GMI) initiati...

PURPOSE Determine the characteristics of percutaneous core biopsies that are adequate for a next generation sequencing (NGS) genomic panel. MATERIALS AND METHODS All patients undergoing percutaneous core biopsies in interventional radiology (IR) with samples evaluated for a 46-gene NGS panel during 1-year were included in this retrospective study. Patient and procedure variables were collecte...

Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

INTRODUCTION Molecular diagnosis of monogenic diabetes mellitus is important for individualized patient care. Next-generation sequencing (NGS) enables a simultaneous analysis of multiple genes in a single test. OBJECTIVES We aimed to assess the feasibility of using NGS for detecting mutations in a set of known monogenic diabetes gene mutations in a cohort of Polish patients with maturity-onse...

Next-Generation Sequencing for Personalized Cardiovascular Disease Care Cardiovascular disease (CVD) is the leading cause of death worldwide. Prediction and prevention of CVD, such as coronary artery disease and atherosclerosis, traditionally depend on identification of risk factors. These factors are effective in the general assessment of CVD risk but are not consistent indicators for all indi...

BACKGROUND Genetic screening in families with high risk to develop colorectal cancer (CRC) prevents incurable disease and permits personalized therapeutic and follow-up strategies. The advancement of next-generation sequencing (NGS) technologies has revolutionized the throughput of DNA sequencing. METHODS A series of 16 probands for either familial adenomatous polyposis (FAP; 8 cases) or here...