A large international team of researchers claims to have finally sequenced the entire human genome. Overall, the team is known as the Consortium Telomere-to-Telomere (T2T), and they have written a paper describing their efforts and has been uploaded to bioRxiv̵7;s preprint server.
Back in 2000, a team from the Human Genome Project working with biotechnology company Celera Genomics announced that they had completed the first draft of the human genome sequencing. That first figure lost about 15% of the genome. Working since that time has reduced the percentage to just 8%, and now the T2T Consortium claims it has reduced it to zero. But there are still some caveats. The group acknowledges that they have some genomic issues of about 0.3% and that there may be some minor errors here and there. But there are no gaps, which is why the group calls itself the The Telomere-to-Telomere Consortium is part of their work. The team discovered about 115 new genes that encode the protein. resulting in a total of 19,969
The researchers suggest that their work was only possible because they were using a new technology developed by Oxford Nanopore and Pacific Biosciences, a new technology that allows sequencing without cutting DNA into pieces, rather than running DNA through nanoscale holes. with a laser to read the sequence repeatedly to reduce errors They also claim that the number of known bases has increased from 2.92 billion to 3.05 billion and that the number of known genes has increased by 0.4%.
The researchers also note that the genomes they sequenced did not originate from individuals. but from the hydatidiform This is a rare growth in a woman’s uterus. Such maturation occurs when a sperm is able to fertilize a nucleated egg. Thus, there are only 23 chromosomes, 46 more than the normal 46 found in most human cells. The researchers chose to sequence the hydatidiforms because it simplified the calculations.
The results have not been peer reviewed. This is why the genomics community has stopped commenting. In the meantime, the T2T team is planning to continue sequencing multiple individuals from around the world.
Scientists achieve the first complete assembly of the human X chromosome
Sergey Nurk et al The complete sequence of the human genome. bioRxiv (2021). doi: 10.1101/2021.05.26.445798
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reference: Researchers claim to have sequenced the entire human genome (2021, June 7) retrieved on 7 June 2021 from https://phys.org/news/2021-06-sequenced-entire. -human-genome.html
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