Journal
NEUROMOLECULAR MEDICINE
Volume 23, Issue 2, Pages 225-235Publisher
HUMANA PRESS INC
DOI: 10.1007/s12017-020-08601-7
Keywords
Gene panel; Neurological diseases; Next-generation sequencing (NGS); Whole exome sequencing (WES); Whole genome sequencing (WGS)
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The NGS method is crucial for identifying genetic causes of neurodegenerative diseases like Alzheimer's and Parkinson's by quickly and accurately diagnosing them. With its ability to cater to individual genome variations, NGS has transformed personalized medicine and treatment strategies. However, the NGS method also has its own limitations.
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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