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WHAT IS GENOME ANALYSIS?
HISTORY
James Watson and Francis Crick publish a short letter paper on the double helix structure of DNA in Nature, April 25, 1953. It was the first time in the world that DNA secrets were revealed.
However, researchers have begun to apply DNA sequencing in earnest after researching chromosomes more than 20 years later.
Frederick Sanger, a British biochemist from the University of Cambridge Medical Research Center in 1977, succeeded in analyzing the entire sequence of ψX174 phage, including Professor Walter Gilbert of Harvard University.
A number of next-generation sequencing tools have emerged and the method used by British biochemist Frederick Sanger was based on electrophoresis. When the direct current voltage is applied, the microparticle moves in one direction. Professor Siae successfully analyzed the sequence of DNA using the electrophoresis phenomenon appropriately.
As the genetic analysis market is expanding, the era of cheap DNA analysis for the general public is coming soon. This technology was automated by Applied Biosystems, a biotechnology company in the mid-1880s. And the core technology of the Human Genome Project (HGP) led by the National Human Genome Research Center (NHGRI) in the National Institutes of Health (NIH) in 1989.
DNA genetic information consists of four bases (A, T, G, C). Analyzing the base sequence reveals the sequence of how the four basic components are arranged within specific genetic information.
A team of six countries, including the United States and the United Kingdom, began analyzing 3.2 billion pairs of DNA using DNA samples from two women and two men. Twelve years later, on February 12, 2001, the research team unveiled the human gene secret on the Internet in collaboration with the US biotechnology company Celera Genomics.
A new fact has also been revealed. Research has shown that the number of human genes is between 24,000 and 40,000, far less than the estimated 100,000, and is only twice as much as the fruit fly. It has also been confirmed that the difference in individual DNA is only 2% of the total, and that there are no differences between races.
The 'Human Genome Project' completed on April 14, 2003. It was a big project that cost $ 2.7 billion. Innovation has also been in the way of analyzing the sequence as much money has been invested. In 2000, DNA sequencing equipment was commercialized and private companies started to enter the market.Technology development has opened the era of gene analysis popularization. And 13 years later, "Next-generation sequencing" (NGS) has emerged, which was not imagined in the past.
NEW TECHNOLOGY
Joichi Ito, director of MIT Media Lab, said in a lecture last April that "we can easily analyze 2 million nucleotide sequences." The error has also been greatly reduced. One error per 100 errors in the past has been reduced to about a factor of 10,000. In the past, we had to work by hand, but now all of the technology is automated, and the speed of the analysis has been drastically reduced.
According to Randy Magazine (www.rdmag.com), the emerging ultra-high-throughput sequencing systems are capable of analyzing more than 50,000 sequences at the same time. With this device, gene analysis can be completed in one day.
The companies that are developing NGS (Next Generation Sequencing Analyzer) include Illumina, Life Technologies, 454 Life Sciences, Pacific Biosciences. The biggest issue for these companies is to further reduce the time and cost of sequencing, and improve sample preparation techniques and data quality. Especially, sampling preparation technology that refers to the work process after collecting samples such as DNA and RNA is a field where much efforts are being made.
Techniques for upgrading low quality samples have been developed and are now appearing on the global market. With the advent of new products with new technologies, the market for next-generation sequencing analyzers (NGS) is expanding.
ECONOMY
According to market research company MarketsandMarkets, the global market size of NGS reached $ 2.4 billion last year. If sales increase at the same rate as now, it is expected to form a $ 8.7 billion market by 2020.
As the supply of NGS increases, the cost of analysis continues to decline. '454 Life Science' cut the cost from $ 100,000 in 2007 to $ 10,000 in 2011. By 2015, the cost has fallen below $ 4,000.
"Illumina", which has been leading the market, introduced the new NGS "HiSeq X Ten Sequencing System" last year and lowered gene analysis cost to $ 1000. And now it is opening the age of popularization of gene analysis.
Genetic analysis is one of the core technologies that will lead the future medical technology. Demand is inevitable. With the global market expanding, the era of inexpensive DNA analysis for the general public is coming soon.