What Is Genetic Sequencing in Global In-Vitro Diagnostis?

Nucleic acid sequencing is a technique for identifying the nucleotide base order of a DNA molecule in the Global In-Vitro Diagnostis industry. Adenine, cytosine, guanine, and thymidine, represented by the letters A, C, G, and T, respectively, carry information in the form of four chemical groups or bases in a DNA molecule. Edward Sanger's Sanger sequencing (the chain-termination method) was regarded as the gold standard for nucleic acid sequencing for the next two and a half decades. For almost two decades, Life Technologies has provided automated capillary electrophoresis systems for Sanger sequencing.

Importance

DNA sequence knowledge has become essential for fundamental biological study, various research disciplines that use DNA sequencing, and a variety of applied fields, including:

  • Diagnostic

  • Biotechnology

  • Forensic Biology

  • Biological Systematics.


One of the most massive scientific undertakings in human history has been sequencing the human genome and related species. The introduction of DNA sequencing has sped up biological studies and discoveries. Sequencing data has given the raw material for the rapidly growing discipline of bioinformatics, which combines computer science with biology in a symbiotic relationship.



Figure 1: Applied Biosystems' 3500Dx is an automated DNA Sequencer/Genetic Analyzer. It's a Global In-Vitro Diagnostis Medical Device designed for the clinical market to identify genetic alterations that might indicate the existence or susceptibility to illness.

Figure 2: Automated sequencing generates an electropherogram, which is a computer-generated output. The peaks show the intensity of fluorescent ddNTPs. The sequence is printed on the peaks' tops. Black, green, red, and blue peaks correspond to the DNA nucleotides G, A, T, and C.


Role of Human Genome Project


The Human Genome Project, a multinational scientific endeavour to establish the human genome sequence and identify the genes it contains, was created because of the great promise of DNA sequencing. The Human Genome Project's ultimate objective was to decode the exact sequence of all 3.2 billion nucleotide bases that make up the human genome, letter by letter. Building comprehensive genomic and physical maps of the human genome is one way to do this. The National Institutes of Health and the US Department of Energy collaborated on the project. Universities from all across the world contributed as well. The Human Genome Project was launched in 1990 and finished in 2003, two years ahead of schedule.


Impact of Next-Generation Sequencing in Genomics

In Sanger-based sequencing, the necessity for the electrophoretic separation of DNA fragments for reading DNA sequence information was the significant barrier for throughput, increasing time and limiting the number of reactions conducted in parallel. NGS stands for "next generation" or "deep" sequencing, a novel, versatile DNA sequencing technique that allows for high-throughput, highly customisable whole genome-scale experiments at a low cost and with high accuracy.


NGS Platforms for Genomic Research and Diagnostics

Illumina is the industry leader in NGS systems, with the highest market share. Life Technologies (Thermo Fisher Scientific) in the United States, 454 Roche in the United States, and Pacific Biosciences in the United States are businesses having commercial platforms (U.S.). The market will be driven by Illumina's recently released platforms, such as HiSeq X Ten and NextSeq 500. The entire next-generation sequencing market is divided into three primary sectors based on phases in the NGS workflow: pre-sequencing, NGS platforms and services, and NGS data analysis, storage, and administration. With NGS-based assays, the focus is shifting away from the technical aspect and toward data processing.




Global In-vitro diagnostis are performed on samples obtained from the human body, such as blood or tissue. In-vitro diagnostics can assist cure, treat, or prevent diseases by detecting diseases or other problems and monitoring a person's general health. Precision medicine may employ in vitro diagnostics to identify patients likely to benefit from specific treatments or therapies. Next-generation sequencing tests, which scan a person's DNA for genetic changes, are examples of Global In-Vitro Diagnostics. Some tests are for use in a laboratory or by other health professionals, while others are for use by consumers at home.












 

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