Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

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...

Practice guidelines for Targeted Next Generation Sequencing

DNA sequencing is the most commonly used approach for mutation scanning and is widely regarded as the gold standard. Agreed practice guidelines for both the sequencing process and data analysis are important to achieve a high quality approach, with common quality standards across different laboratories. These guidelines do not constitute an experimental protocol or troubleshooting guide, rather...

Targeted Next-Generation Sequencing for Forensic Genomics

Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing

OBJECTIVES The aim of this study was to combine clinical criteria and next-generation sequencing (pyrosequencing) to establish a diagnosis of familial hypercholesterolaemia (FH). DESIGN, SETTING AND SUBJECTS A total of 77 subjects with a Dutch Lipid Clinic Network score of ≥ 3 (possible, probable or definite FH clinical diagnosis) were recruited from the Lipid Clinic at Sahlgrenska Hospital, ...

Next-Generation Sequencing: Targeting Targeted Therapies.

Next-generation sequencing (NGS) has given new perspective in oncology. With the ongoing development of targeted therapies, NGS is evolving molecular diagnostics by providing comprehensive interrogation of clinically actionable genomic aberrations in tumors. Having this assay as the primary testing method produces clinically beneficial results. See related article by Drilon et al., p. 3631.