The applications and challenges of next- generation sequencing in diagnosing neuromuscular disorders

Research output: Chapter in Book/Report/Conference proceedingChapter

Authors

  • C. Alexander Valencia
  • Lijun Wang
  • Arunkanth Ankala
  • Hamoud Al Khallaf
  • Xinjian Wang
  • Mikhail Martchenko
  • Biao Dong
  • Ammar Husami
  • Kejian Zhang

External Institution(s)

  • Cincinnati Children's Hospital Medical Center
  • University of Cincinnati
  • Emory University
  • Keck Graduate Institute
  • Sichuan University

Details

Original languageEnglish (US)
Title of host publicationNext Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
StatusPublished - May 15 2017

Abstract

Inherited neuromuscular disorders (NMDs) form a group of highly heterogeneous diseases with a relatively high incidence of 1 in 3000. NMDs affect the peripheral nervous and muscular systems, resulting in gross motor disability. Disease subtype diagnosis is complicated by the high clinical and genetic heteroge- neities of the disease and consequently more than 50% of the cases remain molecu- larly uncharacterized. Traditional gene-by-gene approach is quite exhaustive and after a few negative tests the quest for diagnosis is often given up without establish- ing diagnosis. However in the recent years, the clinical applications of next- generation sequencing (NGS)-based comprehensive approach such as multi-gene panels, and exome sequencing have allowed for rapid diagnosis. Additionally, its applications in research settings have allowed for identification of new disease- causing genes and variants which translated into an improved clinical diagnostic yield. Here, we discuss the application of NGS technology in NMDs as a diagnostic and research tool. We conclude that such an application will tremendously broaden our knowledge of NMDs; the outcome of which includes rapid and accurate diagnosis that would result in an earlier and more effective intervention.

    Research areas

  • Exome sequencing, Inherited, Muscular dystrophy, Neuromuscular disorder, Next-generation, Sequencing

Citation formats

APA

Valencia, C. A., Wang, L., Ankala, A., Al Khallaf, H., Wang, X., Martchenko, M., ... Zhang, K. (2017). The applications and challenges of next- generation sequencing in diagnosing neuromuscular disorders. In Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders (pp. 177-200). Springer International Publishing. https://doi.org/10.1007/978-3-319-56418-0_10

Harvard

Valencia, CA, Wang, L, Ankala, A, Al Khallaf, H, Wang, X, Martchenko, M, Dong, B, Husami, A & Zhang, K 2017, The applications and challenges of next- generation sequencing in diagnosing neuromuscular disorders. in Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Springer International Publishing, pp. 177-200. https://doi.org/10.1007/978-3-319-56418-0_10