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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MDPI AG
2021-04-01
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| Online Access: | https://www.mdpi.com/2075-1729/11/4/361 |
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| author | Hui Sun Xiao-Rong Shen Zi-Bing Fang Zong-Zhi Jiang Xiao-Jing Wei Zi-Yi Wang Xue-Fan Yu |
| author_facet | Hui Sun Xiao-Rong Shen Zi-Bing Fang Zong-Zhi Jiang Xiao-Jing Wei Zi-Yi Wang Xue-Fan Yu |
| author_sort | Hui Sun |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T12:11:44Z |
| format | Article |
| id | doaj.art-9cf695fbc4104b54a92baa974ca1460c |
| institution | Directory Open Access Journal |
| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-10T12:11:44Z |
| publishDate | 2021-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj.art-9cf695fbc4104b54a92baa974ca1460c2023-11-21T16:09:40ZengMDPI AGLife2075-17292021-04-0111436110.3390/life11040361Next-Generation Sequencing Technologies and Neurogenetic DiseasesHui Sun0Xiao-Rong Shen1Zi-Bing Fang2Zong-Zhi Jiang3Xiao-Jing Wei4Zi-Yi Wang5Xue-Fan Yu6Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaDepartment of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaDepartment of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaDepartment of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaDepartment of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaDepartment of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaDepartment of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun 130021, ChinaNext-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.https://www.mdpi.com/2075-1729/11/4/361next generation sequencingneurogeneticsrare disordersCharcot–Marie–Tooth diseasespinocerebellar ataxiasepilepsy |
| spellingShingle | Hui Sun Xiao-Rong Shen Zi-Bing Fang Zong-Zhi Jiang Xiao-Jing Wei Zi-Yi Wang Xue-Fan Yu Next-Generation Sequencing Technologies and Neurogenetic Diseases Life next generation sequencing neurogenetics rare disorders Charcot–Marie–Tooth disease spinocerebellar ataxias epilepsy |
| 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 | next generation sequencing neurogenetics rare disorders Charcot–Marie–Tooth disease spinocerebellar ataxias epilepsy |
| url | https://www.mdpi.com/2075-1729/11/4/361 |
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