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Next-Generation Sequencing Technologies and Neurogenetic Diseases
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. Sele...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072598/ https://www.ncbi.nlm.nih.gov/pubmed/33921670 http://dx.doi.org/10.3390/life11040361 |
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author | Sun, Hui Shen, Xiao-Rong Fang, Zi-Bing Jiang, Zong-Zhi Wei, Xiao-Jing Wang, Zi-Yi Yu, Xue-Fan |
author_facet | Sun, Hui Shen, Xiao-Rong Fang, Zi-Bing Jiang, Zong-Zhi Wei, Xiao-Jing Wang, Zi-Yi Yu, Xue-Fan |
author_sort | Sun, Hui |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8072598 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-80725982021-04-27 Next-Generation Sequencing Technologies and Neurogenetic Diseases Sun, Hui Shen, Xiao-Rong Fang, Zi-Bing Jiang, Zong-Zhi Wei, Xiao-Jing Wang, Zi-Yi Yu, Xue-Fan Life (Basel) Review 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. MDPI 2021-04-19 /pmc/articles/PMC8072598/ /pubmed/33921670 http://dx.doi.org/10.3390/life11040361 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Sun, Hui Shen, Xiao-Rong Fang, Zi-Bing Jiang, Zong-Zhi Wei, Xiao-Jing Wang, Zi-Yi Yu, Xue-Fan Next-Generation Sequencing Technologies and Neurogenetic Diseases |
title | Next-Generation Sequencing Technologies and Neurogenetic Diseases |
title_full | Next-Generation Sequencing Technologies and Neurogenetic Diseases |
title_fullStr | Next-Generation Sequencing Technologies and Neurogenetic Diseases |
title_full_unstemmed | Next-Generation Sequencing Technologies and Neurogenetic Diseases |
title_short | Next-Generation Sequencing Technologies and Neurogenetic Diseases |
title_sort | next-generation sequencing technologies and neurogenetic diseases |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8072598/ https://www.ncbi.nlm.nih.gov/pubmed/33921670 http://dx.doi.org/10.3390/life11040361 |
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