Researchers publish for the first time the complete sequence of a human genome – Época Negócios

Genome (Photo: Thinkstock)

Scientists have published the complete sequence of a human genome for the first time (Photo: Thinkstock)

Researchers have published, for the first time, the complete sequence of a human genome. According to scientists, in addition to the medical implications, such as understanding the origin of genetic diseases, having a complete and gap-free sequence of the approximately 3 billion letters that make up our DNA is important to answer questions about human diversity and even evolution. .

The complete sequencing is based on the work of the Human Genome Project, which mapped about 92% of the genome in 2003, and also in research carried out later. Until then, crucial parts of the sequence, responsible for the remaining 8%, were hidden from scientists because the existing technology was not enough.

Speaking to Bloomberg, Eric Green, director of the National Human Genome Research Institute (NHGRI), said that “generating a truly complete sequence of the human genome represents an incredible scientific achievement, providing the first comprehensive view of our DNA project.”

The human genome is made up of just over 6 billion individual DNA letters spread across 23 pairs of chromosomes.

To read a genome, scientists first cut all that DNA into pieces that have hundreds or thousands of letters. Subsequently, sequencing machines read the individual letters of each part, and scientists try to assemble the pieces in the correct order, almost like a jigsaw puzzle.

However, some regions of the genome repeat the same letters several times, and it was precisely this repetition that made it impossible to assemble some parts in the correct order. Furthermore, most cells contain two genomes (one from the father and one from the mother), and when researchers tried to put all the pieces together, the sequences from each parent could get mixed up.

In the mid-2000s, researchers came up with the idea of ​​sequencing just one genome at a time, not both. Other important advances included improvements to gene sequencing machines made by Oxford Nanopore Technologies and Pacific Biosciences.

According to Evan Eichler, a researcher at the University of Washington School of Medicine and co-chair of the Telomere to Telomere (T2T) consortium, which led the work, the complete sequence of a human genome will revolutionize everything we know about disease and evolution. .

The expectation is that, in the future, sequencing the entire genome of a person will be simpler and, therefore, less expensive as well.

Want to check out exclusive content from BUSINESS season? Get access to the digital version.

About Abhishek Pratap

Food maven. Unapologetic travel fanatic. MCU's fan. Infuriatingly humble creator. Award-winning pop culture ninja.

Check Also

Covid in North Korea: from 1st confirmed case to 1 million with ‘fever’ in less than a week | World

North Korean leader Kim Jong-un has ordered the army to help distribute medicine to the …