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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...

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Autores principales: Sun, Hui, Shen, Xiao-Rong, Fang, Zi-Bing, Jiang, Zong-Zhi, Wei, Xiao-Jing, Wang, Zi-Yi, Yu, Xue-Fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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