April 6, 2022 – For the first time, the human genome has been documented to the end, much to the delight of scientists.
“It’s a huge and exciting career in the genomic community and the general science and healthcare community,” said Benjamin Solomon, MD, medical director of the National Human Genome Research Institute.
More than 100 scientists have covered the last 8% of the loss of human genetic information and published the findings in a series of six papers in a journal. Science as well as companion papers in other books.
Solomon said his local business was “burned out” these days.
The papers reported that the researchers, a part of the global consortium called Telomere-to-Telomere (T2T), named for the caps at the end of all chromosomes, filled the layers of missing data and change information that could not be read before the last 2. years.
After 2003, researchers reported that the human genome was organized as part of the Human Genome Project, but there were gaps in the wealth of information that could not be accessed at that time.
This 8% loss can unravel the symptoms of mysteries such as how cells make proteins, how people adapt and survive diseases, why diseases develop cancer, how we change medications, and why the human brain is much larger and better at processing information than apes. and many more, scientists say.
Understanding the human body
Many benefits will be seen in the future, says Solomon, but in the midst of improvements in the near future there will be a clearer direction for comparing gene deficiencies.
He said it was like playing a game for the children to see the small differences in the two pictures.
With layers rather than the genome, it is more difficult to organize the visual acuity, with holes, blurry images, and recording faulty areas, so it is more difficult to understand the difference. Genetically different in the case of a disease.
“There are some issues that we can resolve right now that we couldn’t have before because the genome’s index map is so much better,” Solomon explains.
One of the leaders of the T2T industry, Evan Eichler, PhD, a professor of genome science at the University of Washington in Seattle, said the 8% lost was caused by new human DNA frequently. Called deoxyribonucleic acid, these genetic signals are sometimes repeated thousands of times, making the sequencing technology very difficult to decipher.
Navigating new genetics is “like going in a circle without a door,” said Eichler, who is also part of the Human Genome Project. With advances in the last 2 years, technology is able to separate new genetics and display messages in long and readable strings.
The human genome, with 23 chromosomes, contains 3 billion base pairs, and 8% is returned to add 200 million new base groups, which is like adding one large chromosome. very much in scientific knowledge, he said.
Among the things that a permanent map can help explain a person’s risk of heart disease. Eichler said the new knowledge could help scientists understand what is called “lipoprotein (a).” The piece is kind of relatively new, he said, and people are trying to fix it before it gets lost.
“We haven’t been able to routinely sequence that gene for the last 2 years because the end of the tail – the functional end of the root – has done these long processes,” he said. “Now we have our first full copy,” which allows scientists to ask questions and come up with tests for the link between the gene and heart disease. “It’s a simple example of where this knowledge is very valuable,” Eichler said.