Understanding Musculoskeletal Disorders Through Next-Generation Sequencing

Abstract

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. Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSREV/A827).

Examining craniofacial variation among crispant and mutant zebrafish models of human skeletal diseases

“…As these associations are identified, methods such as Next Generation Sequencing and genetic modification of model organisms are used to parse out the underlying genetic mechanisms of skeletal diseases. CRISPR‐modified mouse and zebrafish models have been used to understand the mechanisms for skeletal diseases such as sclerosteosis, osteoporosis, and osteogenesis imperfecta, as well as more rare variations of these disorders (Garg et al, 2022; Kaya et al, 2022; Kwon et al, 2019). Using model organisms to understand the genetic mechanism of these disorders presents opportunities to develop and test potential treatments (Kague & Karasik, 2022).…”

Examining craniofacial variation among crispant and mutant zebrafish models of human skeletal diseases

“…As these associations are identified, methods such as Next Generation Sequencing and genetic modification of model organisms are used to parse out the underlying genetic mechanisms of skeletal diseases. CRISPR-modified mouse and zebrafish models have been used to understand the mechanisms for skeletal diseases such as sclerosteosis, osteoporosis, and osteogenesis imperfecta, as well as more rare variations of these disorders (Garg et al, 2022; Kaya et al, 2022; Kwon et al, 2019). Using model organisms to understand the genetic mechanism of these disorders presents opportunities to develop and test potential treatments (Kague and Karasik, 2022).…”