Molecular Diagnosis of Myopathies

Gomez-Vargas, Andrew; Baker, Steven K.

doi:10.1016/j.rdc.2011.01.009

Cited by 2 publications

(1 citation statement)

References 86 publications

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“…An example of this was demonstrated by a population-based study which reported that the highest epilepsy diagnostic yield was obtained via MRI (65%), and, although WES/WGS was performed in only 26/116 cases (22%), the associated diagnostic yield reached 58% [74]. Additionally, the diagnosis of certain conditions associated with neuromyopathy, such as MD, and CMS can avoid the need for muscle biopsy by instead performing genetic testing [131]. Moreover, NGS may become a tool for early intervention or trial treatment, thereby greatly reversing disease trajectory [132,133].…”

Section: Concluding Remarks and Future Perspectivesmentioning

confidence: 99%

Next-Generation Sequencing Technologies and Neurogenetic Diseases

Sun

Shen

Fang

et al. 2021

Life

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Next-generation sequencing (NGS) technology has led to great advances in understanding the causes of Mendelian and complex neurological diseases. Owing to the complexity of genetic diseases, the genetic factors contributing to many rare and common neurological diseases remain poorly understood. Selecting the correct genetic test based on cost-effectiveness, coverage area, and sequencing range can improve diagnosis, treatments, and prevention. Whole-exome sequencing and whole-genome sequencing are suitable methods for finding new mutations, and gene panels are suitable for exploring the roles of specific genes in neurogenetic diseases. Here, we provide an overview of the classifications, applications, advantages, and limitations of NGS in research on neurological diseases. We further provide examples of NGS-based explorations and insights of the genetic causes of neurogenetic diseases, including Charcot–Marie–Tooth disease, spinocerebellar ataxias, epilepsy, and multiple sclerosis. In addition, we focus on issues related to NGS-based analyses, including interpretations of variants of uncertain significance, de novo mutations, congenital genetic diseases with complex phenotypes, and single-molecule real-time approaches.

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