Scientists publish first complete human genome

A team of US experts on March 31 published the first complete human genome, filling in the gaps left after the efforts of previous scientists.

According to Reuters news agency, the successful sequencing of the entire human genome will provide new opportunities in finding clues related to disease-causing mutations and genetic variants among 7.9 billion people around the world. .

Previously, in 2003, researchers had published the complete sequence of the human genome, but about 8% of it had not been completely decoded, mainly because there were a few repetitive DNA fragments. repeats are difficult to connect with the rest.

In turn, a team of scientists from the US National Human Genome Research Institute (NHGRI) tackled this problem in a study published in the journal Science on March 31. The team's decryption work was first published last year but has to go through a review process.

"Successful sequencing of the complete human genome is truly an amazing scientific achievement, providing our first comprehensive look at the blueprint of human DNA," NHGRI Director Eric Green said.

"This new finding will strengthen many of the efforts of scientists and experts who are understanding all the functional nuances of the human genome, thereby assisting in genetic studies of diseases," Green said. in humans'.

A team of US scientists on March 31 published the first complete human genome.

The full version of this assembly includes 3.055 billion base pairs - the units from which human chromosomes and genes are made, and 19,969 protein-coding genes. Of these genes, the researchers identified about 2,000 new genes.

Most of them have been disabled, but 115 genes can still be active. The scientists also discovered about 2 million additional genetic variants, 622 of which are present in medically relevant genes.

This complex is named Telomere-to-Telomere (T2T) after the structure found at the ends of all chromosomes, the filamentous structure in the nucleus of most living cells that carries genetic information in the form of genes.

"In the future, when someone has their genome sequenced, we'll be able to identify all of the variations in their DNA and use that information to better guide their healthcare." " - said Mr. Adam Phillippy, senior investigator at NHGRI.

"Really, perfecting the human genome sequence is like getting a new pair of glasses. Now that we can see things better, we're one step closer to understanding what it all means. of it," added Mr. Phillippy.

In addition, the new DNA sequences provide new insights into the region around what is called the centromere, where the chromosomes are held and pulled out as the cell divides to ensure that each cell." child" inherits the appropriate number of chromosomes.

'Discovering the complete sequence of these formerly missing regions of the genome tells us a lot about how they are organized, which many chromosomes are completely unknown' - Mr. Nicolas Altemose, a doctoral student at the University of California, said.