In the fields of modern medicine and biotechnology, next-generation gene sequencing technology (NGS, Next-Generation Sequencing) has become an important tool and is widely used in genetic research, clinical diagnosis, cancer research and other fields. NGS technology has greatly promoted the development of genomics through its high-throughput, fast and accurate characteristics. However, although NGS technology has many advantages, there are some shortcomings.
1. Advantages of NGS detection1. High-throughput and rapid analysis NGS technology can sequence and analyze a large number of genomic data in a short period of time, greatly improving the efficiency of genomic research. Compared with traditional Sanger sequencing, NGS can analyze hundreds of millions of DNA fragments at one time, so it can quickly obtain a large amount of genetic information and shorten the research cycle. This makes NGS a core technology in the fields of genomics, precision medicine, etc. 2. High-precision and comprehensive NGS have high sequencing accuracy, and can accurately identify mutation information such as changes, insertions, and deletions of a single base in one experiment. Because NGS can fully detect sequence information in the entire genome or specific region, it can not only reveal mutations in a single gene, but also provide in-depth analysis of the whole genome or multiple genomes, and discover complex gene mutations and structural rearrangements. 3. Cost-effectiveness Although the initial equipment and reagent costs of NGS are relatively high, with the continuous advancement of technology and the maturity of the market, the detection cost of NGS has decreased year by year. Compared with traditional genomics technology, NGS can provide higher detection throughput and more accurate results while reducing costs. Therefore, NGS has become the first choice technology for a large number of genomic research and clinical diagnosis. 4. Wide application scenarios NGS is not only widely used in basic biological research, but also plays an important role in clinical diagnosis, cancer screening, drug research and development, and individualized medical care. Through NGS technology, doctors can accurately diagnose and treat patients' genetic information, which greatly improves the treatment effect and promotes the realization of individualized medicine.
2. Inadequate NGS detection1. Complex data analysis Although NGS can generate a large amount of high-quality data, the data analysis and processing tasks that follow are extremely complex. The genomic data generated by NGS technology is huge and requires relying on powerful computing resources and professional data analysis tools to parse. This is a huge challenge for many research institutions and clinical laboratories. The complexity of data analysis not only increases the difficulty of operation, but also extends the time to obtain results. 2. Sequencing Error and Deviation Although the accuracy of NGS technology is high, there is still a possibility of sequencing error. For example, in detection of high GC content regions, repeat sequence regions, and low frequency variation, NGS may have false positive or false negative results. These sequencing errors can lead to misleading results, so caution is required when interpreting data, and often other verification means are required to confirm their accuracy. 3. High-level technicians are required. The operation and data analysis of NGS technology not only requires expensive equipment and reagents, but also requires high-level technicians to operate. For some small laboratories and medical institutions, talent gaps and technical difficulties may limit the popularity and application of NGS technology. In addition, experimenters need to regularly update their skills to keep up with the pace of technological development. 4. Ethics and Privacy Issues NGS technology can deeply explore individual genetic information, so it also involves ethics and privacy issues. The acquisition, storage and use of genetic data may raise concerns about personal privacy. In addition, how to protect genetic data from being abused and how to ensure the security and confidentiality of genetic information are issues that need to be solved urgently in the application of NGS technology.
NGS technology is undoubtedly an important breakthrough in the fields of genomics and precision medicine. With its advantages of high throughput, fast, accurate and low cost, it has played a huge role in many fields. However, NGS technology also faces challenges such as complex data analysis, sequencing errors, high technician requirements, and ethical privacy. Therefore, when using NGS technology, it is necessary to comprehensively consider its advantages and disadvantages, select a suitable technology platform, and take effective measures to solve related problems to ensure the safety and reliability of the technology.