On March 31, the complete sequence of the human genome was published for the first time in the journal Science. This work was carried out by nearly 100 researchers from the international Telomere-to-Telomere (T2T) Consortium, belonging to the National Human Genome Research Institute, part of the National Institutes of Health of the United States, the University of California, Santa Cruz and the University of Washington.

Until now, up to 92% of our genome had been identified, which was revealed by the Genome Project more than 20 years ago. Now with the sequencing of the remaining 8%, previously known as the “grey zone”, there are more than 3,000 million bases that make up our DNA, which is essential to understand the human genomic significance.

To achieve this, researchers from the T2T consortium have used the Oxford Nanopore ultralong-read sequencing method, which can read up to a million DNA letters in a single read with modest precision, and the PacBio HiFi DNA sequencing method, which it reads about 20,000 “letters” with near-perfect accuracy. Unlike these methods, “short read” technologies are cheaper. However, they generate gaps in the assembled sequences.

Consortium co-chair Adam Phillippy believes that “sequencing a person’s entire genome should become less expensive and easier in the coming years.”

Evan Eichler, co-chair of the T2T consortium and a researcher at the University of Washington School of Medicine, states that the entire project will revolutionize our understanding of human genomic variation, related diseases and evolution. In addition, he opens new lines of research for the development of more personalized therapies.

According to Jair Tenorio, a molecular geneticist at the La Paz hospital in Madrid, “there are researchers who affirm that practically the 23,000 genes in our genome can cause cancer, so knowing these new genes can help us access biological pathways associated with cancer and potentially disengage new therapeutic targets for drug development.

So that we can get an idea, in Spain there are approximately three million people with rare diseases, many of them genetic and of which the cause is unknown. Identifying this hitherto unknown region of DNA can allow us to study it and see if there are patients with these diseases who have a genetic alteration there, which can probably help us improve diagnosis.

If it is possible to identify any disease that is caused by any of these new genes that are related in these up to now unknown regions, their function could be known and potentially the development of treatments or some type of gene therapy”.

The director of the National Human Genome Research Institute, Eric Green, asserts that “this fundamental information will reinforce the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will advance genetic studies of human diseases”.

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