A group of scientists announced that for the first time they have sequenced the entire human genome

DNA, which has a double helical structure, can contain many genetic mutations and changes. (National Institutes of Health / Europa Press)

An international team of scientists has confirmed that they have sequenced the entire human genome, including parts that were lost in the sequencing of the first human genome two decades ago.

If confirmed, This discovery surpasses the achievements of Human Genome Project scientists (HGP), which announced in 2003, after funding nearly $3 billion and 13 years of painstaking research, that they had identified the first sequence of the human genome.

This was a huge advance in science that would revolutionize genomics. However, the initial draft and the ensuing human genome sequence updates are not 100% complete. but now, Scientists from telomere to telomere union (T2T) Claims to have achieved The remaining 8% of the missing human genome is sequenced.

Complete the telomere-to-telomere union (T2T) The first truly complete sequence of 3.055 billion base pairs (bp) of the human genome, Which represents the largest improvement in the human reference genome since its initial release,” the scientists wrote in an article posted to the research server. bioRxiv, which means that it has not yet been peer-reviewed.

The researchers said the new genome represented a leap forward, and it was Made possible by new DNA sequencing technologies It was developed by two private companies: California Pacific Biosciences, Also known as PacBio, the British Oxford Nanopore. Their DNA-reading techniques have very specific advantages over tools that have long been considered essential to researchers.

“8% of the genome is not overlooked because of its lack of relevance, but because of technological limitations,” Researchers wrote.Long-read, high-resolution sequencing has removed this technological barrier, allowing comprehensive studies of genetic diversity throughout the human genome. Such studies will necessarily require a complete and accurate human reference genome, which will eventually lead to the adoption of the T2T-CHM13 cluster presented here. “

The genome the researchers sequenced did not come from a person, But water fractureA lump or rare growth that forms inside the uterus early in pregnancy. This tissue is formed when a sperm fertilizes an egg without a nucleus, so it only contains 23 chromosomes, like gametes (sperm or egg), instead of the 46 found in the DNA of a human cell. These cells simplify the computational effort but can be a limitation.

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“You’re just trying to delve into this last unknown of the human genome”, he said to STAT news Karen Mega, a researcher at the University of California, Santa Cruz, co-led the international consortium. “It hasn’t been done before and the reason it hasn’t been done before is because it’s difficult.”

The consortium explained that their work increased the number of DNA bases from 2.92 billion to 3.05 billion., an increase of 4.5%, by the number of genes that encode Protein increase only 0.4%, priced at 19,699. According to the researchers, the work may also lead to other new insights, including those related to the way genes are regulated.

George Church, a biologist and sequencing pioneer at Harvard University, called the work of “very important”. He said he likes to point this out in his lectures So far no one has sequenced the complete genome of a vertebrate, something that is no longer true, if the new work is confirmed.

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