According to Reuters news agency, in 2003, researchers also introduced a work considered genome complete in humans. However, about 8% of the gene sequences remain incompletely sequenced, mainly because they consist of repetitive DNA fragments that are difficult to link to the rest.
A team of scientists tackled that problem in research published in the journal Science.
“Finding the first complete human genome marks an astonishing scientific achievement, providing the first comprehensive look at DNA sequencing,” said Eric Green, director of the Human Genome Research Institute. National Institutes of Health (NHGRI) – added this background information will aid genetic studies of human diseases.
The complete genome consists of 3.055 billion base pairs that make up chromosomes and genes 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 are still active. The scientists also discovered about 2 million additional genetic variants, of which 622 appeared in genes relevant to medicine.
The complete gene assembly, called Telomere-to-Telomere (T2T), is named after the structure found at the ends of all chromosomes.
“In the future, based on a person’s genetic sequence, we can identify all the variations in DNA and use that information to better care for health,” said Adam Phillippy, one of the researchers. author of T2T – explained.
In addition, the new DNA sequence provides detailed information about the surroundings of the “centromere” – a structure in eukaryotic chromosomes that both helps chromosomes be mobile and is the part that connects two chromatids from the same source together.
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