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NeuroMolecular Medicine

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12.05.2020 | Review

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

verfasst von: Behrouz Shademan, Cigir Biray Avci, Masoud Nikanfar, Alireza Nourazarian

Erschienen in: NeuroMolecular Medicine | Ausgabe 2/2021

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Abstract

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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Titel: Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges
verfasst von: Behrouz Shademan
Cigir Biray Avci
Masoud Nikanfar
Alireza Nourazarian
Publikationsdatum: 12.05.2020
Verlag: Springer US
Erschienen in: NeuroMolecular Medicine / Ausgabe 2/2021
Print ISSN: 1535-1084
Elektronische ISSN: 1559-1174
DOI: https://doi.org/10.1007/s12017-020-08601-7

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