Methods to improve the accuracy of next-generation sequencing
Next-generation sequencing (NGS) is present in all fields of life science, which has greatly promoted the development of basic research while being gradually applied in clinical diagnosis. However, the cost and throughput advantages of next-generation sequencing are offset by large tradeoffs with re...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Bioengineering and Biotechnology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fbioe.2023.982111/full |
| _version_ | 1797946943388778496 |
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| author | Chu Cheng Zhongjie Fei Pengfeng Xiao |
| author_facet | Chu Cheng Zhongjie Fei Pengfeng Xiao |
| author_sort | Chu Cheng |
| collection | DOAJ |
| description | Next-generation sequencing (NGS) is present in all fields of life science, which has greatly promoted the development of basic research while being gradually applied in clinical diagnosis. However, the cost and throughput advantages of next-generation sequencing are offset by large tradeoffs with respect to read length and accuracy. Specifically, its high error rate makes it extremely difficult to detect SNPs or low-abundance mutations, limiting its clinical applications, such as pharmacogenomics studies primarily based on SNP and early clinical diagnosis primarily based on low abundance mutations. Currently, Sanger sequencing is still considered to be the gold standard due to its high accuracy, so the results of next-generation sequencing require verification by Sanger sequencing in clinical practice. In order to maintain high quality next-generation sequencing data, a variety of improvements at the levels of template preparation, sequencing strategy and data processing have been developed. This study summarized the general procedures of next-generation sequencing platforms, highlighting the improvements involved in eliminating errors at each step. Furthermore, the challenges and future development of next-generation sequencing in clinical application was discussed. |
| first_indexed | 2024-04-10T21:20:00Z |
| format | Article |
| id | doaj.art-c64312760f0a40ddb66deed5a4a071a3 |
| institution | Directory Open Access Journal |
| issn | 2296-4185 |
| language | English |
| last_indexed | 2024-04-10T21:20:00Z |
| publishDate | 2023-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Bioengineering and Biotechnology |
| spelling | doaj.art-c64312760f0a40ddb66deed5a4a071a32023-01-20T07:44:08ZengFrontiers Media S.A.Frontiers in Bioengineering and Biotechnology2296-41852023-01-011110.3389/fbioe.2023.982111982111Methods to improve the accuracy of next-generation sequencingChu ChengZhongjie FeiPengfeng XiaoNext-generation sequencing (NGS) is present in all fields of life science, which has greatly promoted the development of basic research while being gradually applied in clinical diagnosis. However, the cost and throughput advantages of next-generation sequencing are offset by large tradeoffs with respect to read length and accuracy. Specifically, its high error rate makes it extremely difficult to detect SNPs or low-abundance mutations, limiting its clinical applications, such as pharmacogenomics studies primarily based on SNP and early clinical diagnosis primarily based on low abundance mutations. Currently, Sanger sequencing is still considered to be the gold standard due to its high accuracy, so the results of next-generation sequencing require verification by Sanger sequencing in clinical practice. In order to maintain high quality next-generation sequencing data, a variety of improvements at the levels of template preparation, sequencing strategy and data processing have been developed. This study summarized the general procedures of next-generation sequencing platforms, highlighting the improvements involved in eliminating errors at each step. Furthermore, the challenges and future development of next-generation sequencing in clinical application was discussed.https://www.frontiersin.org/articles/10.3389/fbioe.2023.982111/fullimprovementhigh accuracyclinical applicationfuture developmentnext-generation sequencing |
| spellingShingle | Chu Cheng Zhongjie Fei Pengfeng Xiao Methods to improve the accuracy of next-generation sequencing Frontiers in Bioengineering and Biotechnology improvement high accuracy clinical application future development next-generation sequencing |
| title | Methods to improve the accuracy of next-generation sequencing |
| title_full | Methods to improve the accuracy of next-generation sequencing |
| title_fullStr | Methods to improve the accuracy of next-generation sequencing |
| title_full_unstemmed | Methods to improve the accuracy of next-generation sequencing |
| title_short | Methods to improve the accuracy of next-generation sequencing |
| title_sort | methods to improve the accuracy of next generation sequencing |
| topic | improvement high accuracy clinical application future development next-generation sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fbioe.2023.982111/full |
| work_keys_str_mv | AT chucheng methodstoimprovetheaccuracyofnextgenerationsequencing AT zhongjiefei methodstoimprovetheaccuracyofnextgenerationsequencing AT pengfengxiao methodstoimprovetheaccuracyofnextgenerationsequencing |