Scientists have learned about the complete human genome. The discovery will help in the study of diseases

The telomere-to-telomere consortium (T2T), led by experts from the US National Human Genome Research Institute (NHGRI), the University of California, Santa Cruz, and the University of Washington in Seattle, has made a major advance in human genetics.

In six publications in Science and additional work in other journals, scientists describe the complete, gap-free sequencing of the human genome.

Developing a complete sequence of the human genome is truly an amazing scientific achievement. It provides the first complete insight into our DNA template. This background information will support many of the efforts already underway to understand functional differences in the genome, which in turn will aid in genetic disease research, said Dr. Eric Green, Director of the NHGRI.

Whole genomes, for example, would allow for a more detailed study of genetic diversity among people. This information is essential to understanding the influence of genes on the development of many diseases and the use of genes in health care. Researchers have already found, for example, two million new variants, which allows us to better understand the influence of more than 600 genes important for the formation of diseases.

The results will also allow for a better understanding of how chromosomes function – for example, how they are shared.

– It may turn out that in those regions that we did not know at all or did not read incorrectly until now, there are genetic variants that are responsible for the formation of symptoms for many diseases. There are often regions of great diversity, allowing precise differentiation of people from one another – these places were also technically troublesome for exact sequencing, comments Dr. Paula Dubos, Head of Genetics and Genomics at Central Clinical Hospital in the Ministry of Home Affairs and Administration in Warsaw.

He adds that reading the whole genome sequence is also of cognitive importance, for use in many other fields of science, such as evolutionary genetics and paleobiology.

It indicates that technological progress was required to describe the complete and uninterrupted sequence of the human genome.

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