Here is finally the map of the entire human genome

The sequencing of the missing 8% compared to the 2013 version of the human genome has also been completed: there are 115 more genes, for a total of 19,969. But the Y chromosome is still missing

(image: Getty Images) Twenty years after the first mapping carried out by the laboratories of the Human Genome Project collaboration and by the private Celera, the researchers of the Telomere-To-Telomere (T2T) consortium announce that to have really completed the sequencing of the human genome, also filling those gaps left from the 2013 version. The article is available in preprint on BioRxiv, ready to be evaluated by the rest of the scientific community. But beware: the work is not finished yet.

Update 2021

Compared to the 2013 version, the T2T map has filled that 8% of holes scattered here and there, which still could not be sequenced. These regions are largely made up of repeated base pairs, which are difficult to reposition in the genome puzzle. Today, therefore, almost 200 million base pairs are added (the letters of the book of the genetic code), which define both regulatory zones and protein-coding genes. Of these, in particular, 115 are added.

Technology after technology

What made it possible to fill the gaps of the previous versions was the development of new investigation technologies. T2T researchers did not take a person's DNA, but they derived the genome from a particular type of cell that is obtained when a sperm fertilizes an egg cell without a nucleus: so to analyze there were only the chromosomes of paternal origin, simplifying the work.

But what really made the difference was the DNA sequencing method: if conventional methods can read DNA fragments of a few hundred base pairs at a time, the technology employed by the T2T consortium takes advantage of a laser to scan long stretches of nucleic acid, up to 20,000 base pairs at a time. Longer strokes contain overlapping sequences and are therefore easier to put back together.

The work is not finished

The gaps have been filled, it seems, but the work is not finished . First of all, the authors of the research themselves specify, a sequencing check is necessary. The parts of the human genome that were still missing, in fact, are difficult regions, and mistakes may have been made during sequencing.

Also in this version of the genome map, the Y chromosome (the spermatozoon) has not been sequenced. which provided the genetic material was carrier of X), which is still being worked on.

The T2T consortium also has a collaboration with the Human Pangenome Referex Consortium to sequence the genome consisting of two sets of 23 chromosomes before of a single to reach 300 people in all. The aim is to understand in which parts of the genome and how much we differ from each other.

With the new sequences and genes identified there will also be work to be done to understand what they are used for, which ones regulate expression of other genes and how, which ones code for proteins and if they are associated with the development of diseases in humans.


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