The human genome has been completely deciphered after 20 years of gaps

When a group of scientists announced in 2001 that they had sequenced the human genome, actually what they said was a bit of a lie. Well, in honor of the truth, they didn’t lie, because in the study published at the time in Nature they clarified that they had deciphered only one 92% of the same. However, we already know how it works sometimes: that scientific rigor does not ruin a good title for you. It was reported that the entire genome had been sequenced, but only 8% remained a mystery to science. At least until now, because we can finally say with all the letters that this time the human genome has been completely sequenced.

Scientists have done it Telomere-2-Telomer (T2T)a global collaboration to complete the missing sections in the original human genome assembly.

This discovery led to the publication of six studies in Science and twelve others in other media. In each of them, they delve into one way or another the methods used and what it means to be in possession of all the human genome. And it is that deciphering that 8% was not just a thorn in the side for scientists. It is also very useful, because in this mysterious part of our genetic material there are structures of great importance this can provide us with very important data, both in medicine and for the study of our variability and our evolution as a species.

The missing pieces of the human genome puzzle

What scientists from Human Genome Project he was a big step. For the first time, we were in possession of an almost complete map of our genetic material. It has been used since in Medication to search for possible pathogenic mutations. And also in genetics to study the variability of our species.

It was a big step and basically the only thing that could be done with the tools they had at the time. Generally speaking, what was done then was to take the 23 pairs of chromosomes which make up the DNA of a human being and cut this genetic material into very small parts, since it was the only thing sequencing systems of the time could read. In total, the human genome has a little more than 6 billion letters and the fragments that were fabricated had between hundreds and thousands of letters.