The complete human genome is known! “Like wearing new glasses. We can see everything clearly”

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.

The human genome is fully known

In six publications in the magazine “Science” and additional is working In other journals, scientists have described the complete, gap-free human sequence genome.

The development of truly complete human genome sequences is an amazing scientific feat. 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 the genetic study of the disease.

says Dr. Eric Green, director of the NHGRI.

The complete genome is supposed to allow:at. 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, 2 million new variants, allowing us to better understand the impact of more than 600 formation tasks diseases genes.

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

Advances in genetics

In the following years, a complete reading of the genomes of individuals will become available relatively easily.

In the future, when we read the sequence of a person’s genome, we will be able to identify all the variants in their DNA and use that information in medical assistance, says Dr. Adam Philip, co-chair of the consortium. Completing a human genome sequence is like putting on new glasses. Now that we can see everything clearly, we are one step closer to understanding what it all means

– adds the expert.

In the famous Human Genome Project published two decades ago, 92 percent of the data was read. human genes. Now known 8 percent of the genome is not a small amount – scientists assure that the genetic material will be enough for the entire chromosome.

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At the same time, these episodes are very difficult to study because they contain many recurring sequences. Most Read Now got It is located near specific sites on chromosomes. Some of them are located near the telomeres at their ends, and are made up of many repetitive DNA fragments. Others accompany the central parts – the centromere.

The authors of the achievements drew on the achievements of the Human Genome Project and the research that has been conducted since then. In recent years, new, more perfect tools have been developed laboratory And the computer. For example, new technologies allow longer DNA strands to be read once.

Using long-string reading methods, we have made significant progress in understanding the more difficult and fragment-rich parts of the human genome.

Dr. Karen Megah of the University of California, Santa Cruz points out.

For example, scientists have also created cells that have two identical copies of each chromosome. They are different in nature – the cell has two copies of each chromosome – from the father and from the mother.

Since the first schematic diagram of the human genome was obtained, determining the exact sequence of complex regions has been a challenge. I’m excited that we succeeded. The Complete Matrix will revolutionize the way we think about genetic diversity, disease and evolution

– says Dr. Evan Eichler of the University of Washington School of Medicine.

Author: Marek Mataks / Papp

The article comes from Poland Science Portal – PAP