Next-Generation Diagnostics for Inherited Skin Disorders

Next Generation Diagnostics in Inherited Arrhythmia Syndromes

Next-generation sequencing (NGS) provides an unprecedented opportunity to assess genetic variation underlying human disease. Here, we compared two NGS approaches for diagnostic sequencing in inherited arrhythmia syndromes. We compared PCR-based target enrichment and long-read sequencing (PCR-LR) with in-solution hybridization-based enrichment and short-read sequencing (Hyb-SR). The PCR-LR assay...

Next-generation sequencing for clinical diagnostics.

Yang et al.1 report in the Journal the results of using whole-exome sequencing to make a molecular diagnosis in 62 of 250 cases (25%) sequenced by the clinical sequencing laboratory at the Baylor College of Medicine, which is accredited by the College of American Pathologists and certified through the Clinical Laboratory Improvement Amendments program. This level of success is a marked improvem...

Optical diagnostics - spectropathology for the next generation.

Engineering next generation diagnostics through synthetic biology

Synthetic biology is an interdisciplinary field that uses engineering principles to systematically design and build devices, systems and biological organisms with specified functionalities via methodological assembly of catalogued and standardized biological building blocks. Although initially developed and used by fundamental researchers, the constant refinement of the synthetic biology tool b...

Next-generation microfluidic point-of-care diagnostics.

Microfluidics or lab-on-a-chip (LOC) diagnostic devices have the potential to provide fast, laboratory-quality results to expedite clinical decisions at various point-ofcare (POC) settings, including outpatient clinics, emergency rooms, and intensive care units (1 ). Unfortunately, these technologies remain out of reach in the developing world, where lack of access to quality diagnoses contribu...