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CM – Researchers claim to have sequenced the entire human genome

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June 7, 2021


by Bob Yirka, Phys.org

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 paper describing their efforts and uploading it to the bioRxiv preprint server.

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As early as 2000, a team from the Human Genome Project in collaboration with the biotech company Celera Genomics announced that they had completed the first draft of a sequencing of the human genome. In this first draft, about 15% of the genome was missing. Work since that time has brought the percentage down to just 8%. And now the T2T consortium claims to have reduced it to zero – although there are still some caveats. The group admits that they struggled with about 0.3% of the genome and there might be a few mistakes here and there – but no gaps, which is why the group has called itself a telomere-to-telomere consortium. As part of their work, the team discovered about 115 new genes that code for proteins, making a new total of 19,969.

The researchers suspect that their work was only possible because they were one from Oxford Nanopore and Pacific Biosciences took advantage of the new technology they developed – the new technology allowed sequencing without cutting the DNA into pieces. Instead, it ran the DNA through a nanoscopic hole, with lasers reading the sequences repeatedly to reduce errors. They also claim that the number of known bases has now increased from 2.92 billion to 3.05 billion and the number of known genes has increased by 0.4%.

The researchers also find that the genome they sequenced didn’t come from a person, but from a bladder fold, a growth that rarely forms inside a woman’s uterus. Such growths occur when a sperm succeeds in fertilizing an egg cell without a nucleus; As a result, it only has 23 chromosomes instead of the normal 46 found in most human cells. The researchers opted for sequencing the bladder folds because it made their calculations easier.

The results have yet to be peer-reviewed, which is why the genomics community is reluctant to comment – in the meantime, the T2T team plans to continue its work by sequencing multiple people from around the world.

© 2021 Science X Network

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