An international group of scientists belonging to T2T Consortium published this Thursday in the magazine Sciencethe first complete sequence of a human genome.
The image of the complete sequence will allow a greater understanding of human evolution
Prior to this achievement, the Human Genome Project, which was completed in 2003, had managed to read 92% of the sequence. According to National Human Genome Research Institute. The image of the complete sequence will allow a better understanding of human evolution and will open the door to medical discoveries in multiple areas.
The new research introduces 400 million letters in previously sequenced DNA, the value of an entire chromosome. The complete genome will allow scientists to analyze how DNA differs between people and whether these genetic variations play a role in disease.
The research, published in the science magazine on Thursday, it was previously in preprint. Which allowed other teams to use the sequence in their own studies
Until now, it was unclear what these unknown genes encoded.
“It turns out that these genes are incredibly important for adaptation,” Eichler said.
“They contain immune response genes that help us adapt to and survive infections, plagues and viruses. They contain genes that are… very important in terms of predicting drug response.”
Eichler also said that some of the recently discovered genes they are even responsible for making human brains bigger than those of other primates. Which provides insight into what makes humans unique.
This remaining 8% of human genome it had stumped scientists for years because of its complexity. On the one hand, it contained DNA regions with multiple repeats, making it difficult to join the DNA in the correct order using earlier sequencing methods.
The researchers relied on two DNA sequencing technologies that have emerged over the last decade. This, to carry out this project: the Oxford Nanopore DNA sequencing method. which, can sequence up to 1 million DNA letters at a time but with some bugs, and PacBio HiFi DNA sequencing. method, which can read 20,000 letters with an accuracy of 99.9%.
Decoding this sequence without pauses has a high price
Phillippy, who is also chief of the genetic informatics section at the National Human Genome Research Institute, said that, in total, the project cost a few million dollars or more. But that’s a fraction of the nearly $450 million it cost the Human Genome Project to achieve its final sequence in 2003. And with new technology, sequencing is getting cheaper.
For now, sequencing your own genome is still too expensive and time consuming for everyone. But research using this genome is being done to identify whether certain genetic differences are linked to specific cancers. Know the genetic variations it could also allow doctors to better tailor treatments, said Michael Schatz, another researcher on the team and a professor of computer science and biology at Johns Hopkins University.
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