Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges

被引:0
作者
Behrouz Shademan
Cigir Biray Avci
Masoud Nikanfar
Alireza Nourazarian
机构
[1] Ege University,Department of Medical Biology, Medical Faculty
[2] Tabriz University of Medical Sciences,Department of Neurology, Faculty of Medicine
[3] Tabriz University of Medical Sciences,Department of Biochemistry and Clinical Laboratories, Faculty of Medicine
[4] Tabriz University of Medical Sciences,Neurosciences Research Center (NSRC)
来源
NeuroMolecular Medicine | 2021年 / 23卷
关键词
Gene panel; Neurological diseases; Next-generation sequencing (NGS); Whole exome sequencing (WES); Whole genome sequencing (WGS);
D O I
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中图分类号
学科分类号
摘要
Genetic factors (gene mutations) lead to various rare and prevalent neurological diseases. Identification of underlying mutations in neurodegenerative diseases is of paramount importance due to the heterogeneous nature of the genome and different clinical manifestations. An early and accurate molecular diagnosis are cardinal for neurodegenerative patients to undergo proper therapeutic regimens. The next-generation sequencing (NGS) method examines up to millions of sequences at a time. As a result, the rare molecular diagnoses, previously presented with “unknown causes”, are now possible in a short time. This method generates a large amount of data that can be utilized in patient management. Since each person has a unique genome, the NGS has transformed diagnostic and therapeutic strategies into sequencing and individual genomic mapping. However, this method has disadvantages like other diagnostic methods. Therefore, in this review, we aimed to briefly summarize the NGS method and correlated studies to unravel the genetic causes of neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, epilepsy, and MS. Finally, we discuss the NGS challenges and opportunities in neurodegenerative diseases.
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页码:225 / 235
页数:10
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