Scientists sequence the first ever complete human genome

Nearly 100 scientists came together to complete the first-ever completed human genetic sequence, creating the first-ever blueprint for human life.

On April 1, contributors from Telomere-to-telomere union (T2T) I managed to sequence the remaining 8% of the human genome, a residual effort from Human Genome Project (HGP).

The HGP program was started in 1988 by a special committee of the US National Academy of Sciences and was an international collaborative research program whose goal was to map and fully understand all of the genes of humans.

Beginning October 1, 1990, and ending in April 2003, the HGP gave people the ability to read nature’s entire genetic blueprint for building a human being, according to National Human Genome Research Institute. But there are still some loopholes.

HGP was only able to sequence 92% of the human genome in 2003. This year, T2T filled in the remaining 8%.

How long did it take?

The joint effort between HGP and T2T took just over 31 years to accomplish, which may seem like a long time for something so small but reading DNA is so tedious.

Since 2003, scientists have worked to fill in the gaps left by the HGP, according to T2T.

The first sequencing was incomplete because DNA sequencing technologies at the time were not able to read certain parts of it. Even after updates, it still had missing parts.

Evan Eichler, a researcher at the University of Washington who was involved in the study, said: current voltage The Original Human Genome Project. “It took more than 20 years, but we finally got it done.”

How it works?

The human genome is made up of about 3.1 billion DNA subunits, pairs of chemical bases known as the letters A, C, G, and T. Genes are chains of these letter pairs that contain instructions for making proteins, the building blocks of life. Humans have about 30,000 genes, organized into 23 groups called chromosomes that are located in the nucleus of each cell.

To find such genes, scientists needed new ways to read the hidden genetic language of life.

Reading genes requires cutting DNA strands into pieces hundreds to thousands of letters long. Sequencing machines read the letters in each piece and scientists try to arrange the pieces in the correct order. This is particularly difficult in areas where the messages are frequent, the Associated Press noted.

Some regions were illegible before improvements in genetic sequencing machines that now allow them, for example, to accurately read a million letters of DNA at a time, the scientists said. This allows the scientists to see genes with repeating regions as longer chains rather than snippets that they later had to put together.

The researchers also had to overcome another challenge: Most cells contain both maternal and paternal genomes, confusing attempts to properly assemble the pieces. The T2T researchers were able to get around this by using a cell line from a “complete hydatidiform mole,” an abnormal fertilized egg with no fetal tissue that contains two copies of the father’s DNA and no two copies of the mother’s DNA.

Why is this important?

This complete picture of the genome will give humanity a greater understanding of our evolution and biology, the scientists said, while also opening the door to medical discoveries in areas such as aging, neurodegenerative conditions, cancer and heart disease.

“We are only expanding our opportunities to understand human disease,” said Karen Mega, author of one of the six studies. Posted on March 31.

T2T work adds new genetic information to the human genome, corrects previous errors and reveals long stretches of DNA known to play important roles in both development and disease.

What then?

Human Pangenome Reference Consortium It is now trying to create “reference” or model genomes for 350 individuals that represent the breadth of human diversity.

“Now we’ve got one correct genome and we have to do a lot, a lot more,” Eichler said. “This is the start of something really cool in the field of human genetics.”

The Associated Press contributed to this report. This story was reported outside of Los Angeles.