دورية أكاديمية
Chasing Sequencing Perfection: Marching Toward Higher Accuracy and Lower Costs.
| العنوان: | Chasing Sequencing Perfection: Marching Toward Higher Accuracy and Lower Costs. |
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| المؤلفون: | Jia H; CAS Key Laboratory of Zoological Systematics and Evolution & State Key Laboratory of Integrated Management of Pest Insects and Rodents, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China., Tan S; CAS Key Laboratory of Zoological Systematics and Evolution & State Key Laboratory of Integrated Management of Pest Insects and Rodents, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China., Zhang YE; CAS Key Laboratory of Zoological Systematics and Evolution & State Key Laboratory of Integrated Management of Pest Insects and Rodents, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.; University of Chinese Academy of Sciences, Beijing 100049, China.; CAS Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China. |
| المصدر: | Genomics, proteomics & bioinformatics [Genomics Proteomics Bioinformatics] 2024 Jul 03; Vol. 22 (2). |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press on behalf of Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation and Genetics Society of China Country of Publication: England NLM ID: 101197608 Publication Model: Print Cited Medium: Internet ISSN: 2210-3244 (Electronic) Linking ISSN: 16720229 NLM ISO Abbreviation: Genomics Proteomics Bioinformatics Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2024- : [Oxford] : Oxford University Press on behalf of Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation and Genetics Society of China Original Publication: Beijing, China : Science Press and Elsevier |
| مواضيع طبية MeSH: | High-Throughput Nucleotide Sequencing*/methods , High-Throughput Nucleotide Sequencing*/economics, Humans ; Sequence Analysis, DNA/methods ; Sequence Analysis, DNA/economics ; Mutation |
| مستخلص: | Next-generation sequencing (NGS), represented by Illumina platforms, has been an essential cornerstone of basic and applied research. However, the sequencing error rate of 1 per 1000 bp (10-3) represents a serious hurdle for research areas focusing on rare mutations, such as somatic mosaicism or microbe heterogeneity. By examining the high-fidelity sequencing methods developed in the past decade, we summarized three major factors underlying errors and the corresponding 12 strategies mitigating these errors. We then proposed a novel framework to classify 11 preexisting representative methods according to the corresponding combinatory strategies and identified three trends that emerged during methodological developments. We further extended this analysis to eight long-read sequencing methods, emphasizing error reduction strategies. Finally, we suggest two promising future directions that could achieve comparable or even higher accuracy with lower costs in both NGS and long-read sequencing. (© The Author(s) 2024. Published by Oxford University Press and Science Press on behalf of the Beijing Institute of Genomics, Chinese Academy of Sciences / China National Center for Bioinformation and Genetics Society of China.) |
| فهرسة مساهمة: | Keywords: Consensus sequencing; High-fidelity sequencing; Rare mutation; Sequencing error; Single-molecule sequencing |
| تواريخ الأحداث: | Date Created: 20240711 Date Completed: 20240711 Latest Revision: 20240715 |
| رمز التحديث: | 20240715 |
| DOI: | 10.1093/gpbjnl/qzae024 |
| PMID: | 38991976 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2210-3244 |
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| DOI: | 10.1093/gpbjnl/qzae024 |