An international scientific team decoded the entire human genome | The work was published in the journal Science

A world-class team of scientists, called “T2T” (Telomere to Telomere), has published it in a prestigious journal. Science Magazine The first complete sequencing of the human genome. To date, 92 percent have been decoded, constituting an unprecedented event and a corollary of an effort that the global academic community has focused on for decades. The remaining 8 percent, which are not yet in sequence, may be necessary Understanding the origin and development of diseases Of the high incidence today, such as cancer and neurodegenerative diseases, as well as the examination of multiple heart diseases in more detail.

Concluding the assembly of the genomic puzzle, in addition to allowing a more complete study of a wide range of diseases, would also serve Analyzing the diversity and evolution of the human race, so much so that it adds new genetic information, corrects previous errors and reveals unknown extensions. Indeed, a complete reading of DNA is what could ultimately open the door to explaining why humans are different from one another, and even, something more unique and desirable: justifying why they are unique.

The genome constitutes the entire sequence of the genetic material of an organism. Many specialists compare the genome to a huge library contained within the cell nucleus. In cells of human tissue, this information is distributed in 46 “shelfs” (chromosomes) or, better, in 23 pairs of shelves, since there are two copies of all material in the library. Each shelf contains several shelves with many “books” (genes) that make up the units of information. The information that encodes and dictates the instructions for protein synthesis is contained in the DNA molecules located in the cell nucleus.

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Something like the operating manual encoded in each cell gives meaning to all the activities that are performed: from the simplest like sleeping to the most complex thinking. Each human’s script consists of over 3 billion ACGTs: the combined chemical bases of carbon, hydrogen, nitrogen, and oxygen.

This goal of sequencing the entire genome has been pursued for decades: in 2000, the Human Genome Project (HGP) public consortium on the one hand and the private company Celera Genomics on the other hand published their sequencing versions. However, although their contributions represented an important step, the purpose was not completed. It is only now possible thanks to Emergence of new technologies: Sequencers – from Oxford Nanopore and Pacific Biosciences, which were used in this case – that “read” millions of characters in a row with remarkable speed and accuracy. In this way the step is completed: the remaining eight percent of the human genome examined is equivalent to 200 million DNA bases that were not previously known.

Rules that were previously difficult to sequence can now be encoded and open up new possibilities for understanding human biology. And if human biology is understood, the path to developing new treatments that improve people’s quality of life becomes clearer.

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Freddie Dawson

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