Dana is a graduate of the University of Economics, where she studied business and marketing. Her entire career has been dedicated to marketing. She has worked in various industries ranging from advertising agency, FMCG, IT, banking and insurance to HVAC segment. At DNA ERA, she works as a marketing manager and is involved in transforming scientific knowledge into plain language to make it interesting and understandable to the general public.
Scientists have succeeded in reading the entire human genome
Science is constantly advancing and we at DNA ERA are keeping up with it. We keep up to date with the latest scientific studies, which we regularly incorporate into our evaluation software through updates. And we also keep you, the science enthusiast who wants to do more for your health, informed about breakthrough scientific discoveries. A few days ago, scientists succeeded in reading the entire human genome, which will greatly influence the future of genetics and DNA analysis.
A study published in the prestigious scientific journal Science in 2022 by an international team of scientists describes, for the first time, the fully sequenced human genome, which is the total set of genetic information in our bodies. The human genome is made up of approximately 3 billion building blocks, which are pairs of chemical bases known as A, G, C and T. Among other things, the genome contains regions that carry information for the formation of products, in most cases proteins. These regions are called genes and there are approximately 20 000 of them in the human genome.
Progress since 2003
Although the project to sequence the first human genome was completed in 2003, it was not read in its entirety because sequencing technologies were not able to read certain parts of it at the time. As a result, for almost 20 years afterwards, we still did not have a picture of exactly what around 8% of the human genome looked like.
But why did it take so long, despite the fact that the cost of sequencing a single genome has dropped from hundreds of millions to a few hundred euros? The answer lies in the way most sequencers in use today work. In simple terms, very long DNA is cut into many small sections, these are read and then assembled like a jigsaw puzzle. This works well for most of the genome, but not for regions that, for example, contain many of the same repetitive sequences. In recent years, however, very precise sequencing technologies have been developed that are able to read even very long stretches of DNA. As a result, scientists have finally been able to uncover previously hidden corners of the human genome.
Why should we be interested in this news?
As already mentioned, these missing 8% of the genome have been overlooked not because they are not interesting, but because of limitations in technology. Thanks to technological advances, it has been possible to discover additional sequences of approximately 200 million base pairs, which it is thought may contain up to almost 100 new protein-coding genes. This success will help kick-start further research into linking differences at the DNA level to differences at the level of visible traits or features. This could lead to very important discoveries in a variety of fields, including a better understanding of ageing, neurodegenerative diseases or cancer.
Sources:
- Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., … & Phillippy, A. M. (2022). The complete sequence of a human genome. Science, 376(6588), 44-53.
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- https://www.freepik.com/free-photo/dna-closely_922865.htm#query=dna&position=0&from_view=search
- https://www.freepik.com/free-photo/scientist-looking-through-microscopic-lens-work-experiment-using-microscope-analyze-dna-with-selective-focus-laboratory-biologist-working-with-magnifying-glass-close-up_21516103.htm#query=dna%20laboratory&position=22&from_view=search
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