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Complete human genome presented

06.04.2022

Researchers have been able to decipher the missing links in the human genome and this makes it possible to find out where different mutations come from.

19 years ago, scientists announced that they had succeeded in deciphering the complete sequence of the human genome. But then about 8% of the information could not be deciphered. This happened because this part of the genome consists of repetitive DNA fragments that were difficult to connect with the rest.

But now scientists from the National Human Genome Research Institute, which is part of the US National Institutes of Health, have solved this problem.

"The fact that we have been able to completely decipher the complete sequence of the human genome is one of the greatest scientific achievements. It gives us complete information about the structure of our DNA. This will greatly expand the possibilities of research into genetic diseases in humans," says Eric Green, director of the National Genome Research Institute. person.

The complete genome consists of 3,055 billion base pairs, the units that make up chromosomes and our genes, and 19 genes that code for proteins. In the course of the study, scientists discovered approximately 969 new genes, most of which do not work, but 2 of them may still be active.

Scientists have also discovered approximately 2 million additional genetic variants. Of these, 622 variants are present in genes that are important from a medical point of view.

New DNA sequences have provided new insights into the region around the centromere, a region of the chromosome that plays an important role in the process of nuclear division and is involved in the control of gene expression. Around the centromere, chromosomes are pulled apart during cell division to ensure that each "daughter" cell inherits the proper number of chromosomes.

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