Is Sanger sequencing still the gold standard?
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Sanger sequencing remains a crucial method in genetic diagnostics, especially for validating Next-Generation Sequencing (NGS) results . It is particularly essential in detecting mutations in diseases like chronic myeloid leukemia (CML) and for monitoring patients undergoing treatment with tyrosine-kinase inhibitors . While NGS has become prominent in genetic diagnosis, Sanger sequencing is still considered the gold standard due to its accuracy and reliability in confirming NGS data . Additionally, Sanger sequencing is utilized in DNA methylation studies, where it is compared with newer methods to validate results effectively . Despite the emergence of NGS as a powerful tool, Sanger sequencing's role as a reliable and established method in genetic analysis, mutation detection, and methylation studies solidifies its position as the gold standard in various genetic research applications.
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| Papers (4) | Insight |
|---|---|
16 Citations | Yes, Sanger sequencing is still considered the gold standard for validating high-throughput sequencing variants in genetic diagnosis due to its reliability despite advancements in technology. |
| Sanger sequencing is a cost-effective method for SARS-CoV-2 surveillance in regions lacking NGS facilities, providing timely results and aiding in public health interventions, as shown in the study. | |
| NGS is emerging as a potential new gold standard for monitoring CML patients on TKIs due to its ability to detect low-level resistance mutations missed by Sanger sequencing. | |
| Yes, Sanger sequencing remains a cornerstone method for DNA sequencing due to its accuracy in targeting smaller genomic regions, validating results from next-generation sequencing, and providing user-friendly analysis tools. |
Related Questions
What is the Sanger sequencing method?4 answersThe Sanger sequencing method, developed by Frederick Sanger, is a foundational technique for DNA sequencing. It involves chain termination using dideoxynucleotides, allowing the determination of nucleotide sequences with high accuracy. Sanger sequencing is still relevant today, especially in identifying important variants of viruses like SARS-CoV-2. A novel approach even utilized an RGB image sensor for cost-effective DNA sequencing, demonstrating the method's adaptability and innovation. Sanger's pioneering work in protein and nucleic acid sequencing laid the groundwork for major genetic advancements, including determining the first complete DNA sequences of various genomes. Overall, Sanger sequencing remains a vital tool in molecular biology, offering precise and reliable results for genetic analysis.
What are the advantages of Sanger sequencing in the diagnosis of BRCA1 breast cancer?4 answersSanger sequencing has several advantages in the diagnosis of BRCA1 breast cancer. Firstly, it serves as a confirmatory method to improve the diagnostic capability of massively parallel sequencing (MPS) assays, such as BRCA MASTR Plus on the MiSeq platform. Secondly, it has a high concordance rate for identifying BRCA1/2 mutations compared to rapid next-generation sequencing (NGS). Additionally, Sanger sequencing can detect variants of unknown significance (VUS) that may be missed by NGS due to differences in reference databases used for mutation identification. Furthermore, Sanger sequencing has a longer turnaround time compared to NGS, which allows clinicians to make more timely and informed decisions regarding surgery or neoadjuvant chemotherapy in patients with breast cancer. Overall, Sanger sequencing provides accurate and reliable results for the diagnosis of BRCA1 breast cancer, complementing the information obtained from NGS assays.
What ethical concerns are associated with Frederick Sanger research?4 answersFrederick Sanger's research raised ethical concerns in several areas. One concern was the use of animals in scientific research, as Sanger's work heavily relied on veterinary science and animal testing. This raised questions about the ethical responsibility scientists have towards living organisms and the need for transparency in explaining the importance of such research. Additionally, the emphasis on genetic components in complex diseases presented ethical challenges, as it influenced the allocation of research funds and the ascription of responsibility for illness. Sanger's research also highlighted the potential unintended consequences of technological advancements, such as the intensification of farming leading to animal welfare problems and increased antibiotic use. These concerns emphasized the need for a science-literate society and for scientists to listen to public concerns and address ethical issues that may arise.
How is Sanger sequencing used to study Cobra?5 answersSanger sequencing is used in various ways to study different organisms, including cobras. One application is in the field of veterinary diagnostics, where Sanger sequencing is used to provide genetic sequence data for phylogenetic analysis and epidemiologic studies. In the case of alpha1-antitrypsin deficiency (AATD), Sanger sequencing has been used to identify novel mutations in the SERPINA1 gene, which is associated with severe AATD. Sanger sequencing is also used in the diagnosis of bacterial and fungal infections, where it can detect the presence of pathogens through the amplification and sequencing of specific genes. Additionally, Sanger sequencing is still employed for the sequencing of lyssavirus PCR products, facilitating virus typing and molecular epidemiological studies. While the specific use of Sanger sequencing to study cobras is not mentioned in the abstracts provided, it can be inferred that Sanger sequencing can be applied to study the genetic characteristics and epidemiology of cobras, similar to other organisms.
What are the advantages and disadvantages of Sanger sequencing compared to next-generation sequencing?5 answersSanger sequencing has advantages and disadvantages compared to next-generation sequencing (NGS). One advantage of Sanger sequencing is that it is simpler and easier to teach, making it a helpful introduction to sequencing techniques for students. Additionally, Sanger sequencing is still relevant in genetics today and can be used for examining the mitochondrial genome (mitogenome) with comparatively little difficulty. However, Sanger sequencing has limitations. It is a first-generation sequencing method and is not as sensitive as NGS in detecting low-abundance drug resistance mutations (DRMs). NGS, on the other hand, offers de novo identification and quantification of all bacteria and fungi present in a clinical sample, including novel pathogen discovery. NGS also allows for reference-based genome assembly, reducing the financial burden on research projects. Overall, while Sanger sequencing has its uses, NGS provides more sensitivity and advanced diagnostic capabilities.
What were the rules of the gold standard?4 answersThe gold standard was a monetary system based on a commodity money, gold, where countries committed to keeping their currency convertible to gold. This system lasted from 1871 to 1914. Before the gold standard, many countries used a bi-metallic system, which fixed the parity between gold and silver. The transition from bi-metallism to gold mono-metallism was associated with state capacity building by advanced countries, who took on the role of guarantor of the stability of bank money. The gold standard represented a commitment mechanism for monetary authorities, allowing them to temporarily abandon the fixed price of gold during emergencies, with the understanding that convertibility would be restored afterward. It served as a standard to guarantee the value of banknotes and fix exchange ratios between different currencies.