Use of the GeneReader NGS System in a clinical pathology laboratory: a comparative study
نویسندگان
چکیده
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 assessing the system's ease of use, sequencing accuracy and data reproducibility. Our laboratory was able to implement the system and validate its performance using clinical samples in direct comparison to an approved Sanger sequencing platform and to an alternative in-house NGS technology. The QIAGEN workflow focuses on clinically actionable hotspots maximising testing efficiency. Combined with automated upstream sample processing and integrated downstream bioinformatics, it offers a realistic solution for pathology laboratories with limited prior experience in NGS technology.
منابع مشابه
Clinical Pathology Teaching in Laboratory by Socratic Method
Introduction: In recent decades, a variety of teaching methods has been offered for teaching different fields of science, but the old method of questions and answer is still popular and in use. This teaching method, generally applicable to small groups, is based on questioning and finding answers by students which can increase active learning. This study evaluated students' viewpoints toward cl...
متن کاملComparative assessment of N-terminal pro-B-type natriuretic peptide, nitric oxide and echocardiography for diagnosis of dilated cardiomyopathy in dogs
The aim of the study was to evaluate the clinical usefulness of N-terminal pro-brain natriuretic peptide (NT-Pro BNP) and nitric oxide (NO) with echocardiography (gold standard test) in diagnosis of canine cardiomyopathy. Out of 374 cases, 82 cases showing cardiovascular abnormalities including 16 cases of cardiomyopathy were further selected for standardization of biomarkers. Significant (P
متن کاملمجموعه حداقل دادههای سیستم اطلاعات پاتولوژی آناتومیکال از دید خبرگان
Background and Aim: Pathology Information Systems provide opportunities for pathologists and clinical laboratory professionals to influence clinical care and modern research programs. The objective of this study was to determine the minimum data set of Anatomical Pathology Information System from the experts’ point of view. Materials and Methods: This study is considered an applied research ...
متن کاملSecondary Use of Laboratory data: Potentialities and Limitations
Clinical databases have been developed in recent years especially during the course of all medical concerns including laboratory results. The information produced by the diagnostic laboratories have great impact on health care system with various secondary uses. These uses are sometimes as publishing new extracted information of laboratory reports which have been widely applied in the scientifi...
متن کاملGood Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests
Next-generation sequencing (NGS) has recently emerged as an essential component of personalized cancer medicine due to its high throughput and low per-base cost. However, no sufficient guidelines for implementing NGS as a clinical molecular pathology test are established in Korea. To ensure clinical grade quality without inhibiting adoption of NGS, a taskforce team assembled by the Korean Socie...
متن کامل