Journal
LIFE-BASEL
Volume 11, Issue 4, Pages -Publisher
MDPI
DOI: 10.3390/life11040361
Keywords
next generation sequencing; neurogenetics; rare disorders; Charcot– Marie– Tooth disease; spinocerebellar ataxias; epilepsy
Categories
Funding
- Project of Science and Technology, Department of Jilin Province, China [20190303181SF]
- Project of Finance Department of Jilin Province, China [JLSWSRCZX2020-0018, 2018SCZWSZX-025]
Ask authors/readers for more resources
NGS technology has advanced understanding of the genetic causes of neurological diseases, with whole-exome and whole-genome sequencing suitable for finding new mutations and gene panels suitable for exploring specific gene roles. Proper genetic test selection based on cost-effectiveness, coverage area, and sequencing range can enhance diagnosis, treatments, and prevention.
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available