The human genome has been completely deciphered for the first time

The authors of the new work named the genome T2T-CHM13. It has 200 million additional base pairs - previously these were

unknown DNA sequences. Of these, there are 99 genes that appear to code for proteins, and about 2,000 candidate genes that the researchers are going to study closely.

Scientists say they have deciphered the remaining 8%genes are twice as long as the first 92%. This is because heterochromatic regions are made up of large chunks of repeating sections that are difficult to piece together. The genome is like a puzzle in which 8% are identical background fragments that can fit together in any number of ways.

To decipher this sequence, the authorsused tools to read long sequences. Then they explore the genome using the Oxford method of nanopore DNA sequencing - with it you can count up to a million bases at a time. But the degree of accuracy will be low. Another approach, PacBio HiFi, allows you to read information about 20,000 bases simultaneously and the accuracy is also at a high level. The authors combined these two methods.

The next stage of work is to analyze the data obtained and develop a reference pangenome of 350 human genomes. It will take into account the differences that exist in the genomes of different people.

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