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The researchers say they have sequenced the entire human genome


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A large international team of researchers claims to have finally sequenced the entire human genome. Collectively, the team is known as the Telomere-to-Telomere (T2T) Consortium, and they wrote a report describing their efforts and uploaded it to the bioRxiv prepress server.

As early as 2000, a team from the human genome project, working with biotechnology company Celera Genomics, announced that it had completed the first human genome sequence project. About 1

5% of the genome was missing in this first project. Work has since dropped to just 8%. And now, the T2T Consortium claims to have reduced it to zero – although there are still some caveats. The group acknowledges that they have had some problems with approximately 0.3% of the genome and there may be a few bugs here and there – but no gaps, which is why the group has been called the Telomere-to-Telomere Consortium. As part of their work, the team discovered about 115 new genes that encode proteins, giving a total of 19,969 new ones.

The researchers suggest that their work is only possible because they used a new technology developed by Oxford Nanopore and Pacific Biosciences – the new technology allows sequencing without cutting DNA into pieces. Instead, he passed DNA through a nanoscopic hole with lasers that read the sequences multiple times to reduce errors. They also claim that the number of known bases has now risen from 2.92 billion to 3.05 billion, and the number of known genes has increased by 0.4%.

The researchers also note that the genome they sequenced did not originate in humans, but rather hydatidiform, which is a growth that is rarely formed on the inside of a woman’s uterus. Such growths occur when the sperm manages to fertilize an egg that does not have a nucleus; thus it has only 23 chromosomes, not the normal 46 found in most human cells. The researchers chose to arrange the hydatid deformity because it made their calculations easier.

The results have yet to be reviewed by partners, so the genomic community has stopped commenting – meanwhile, the T2T team is making plans for further work by sequencing many people from around the world.

Scientists have achieved the first complete assembly of the human X chromosome

More information:
Sergei Nurk et al., The complete sequence of the human genome, bioRxiv (2021). DOI: 10.1101 / 2021.05.26.445798

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Quote: Researchers claim to have sequenced the entire human genome (2021, June 7) extracted on June 7, 2021 from https://phys.org/news/2021-06-sequenced-entire-human-genome.html

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