Understanding Musculoskeletal Disorders Through Next-Generation Sequencing

» An insight into musculoskeletal disorders through advancements in next-generation sequencing (NGS) promises to maximize benefits and improve outcomes through improved genetic diagnosis. » The primary use of whole exome sequencing (WES) for musculoskeletal disorders is to identify functionally relevant variants. » The current evidence has shown the superiority of NGS over conventional genotyping for identifying novel and rare genetic variants in patients with musculoskeletal disorders, due to its high throughput and low cost. » Genes identified in patients with scoliosis, osteoporosis, osteoarthritis, and osteogenesis imperfecta using NGS technologies are listed for further reference.