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

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

If confirmed, discovery would surpass the achievement of human genome project scientists (HGP), which in 2003, after nearly $ 3 billion in funding and 13 years of painstaking research, announced that it had mapped the first sequence of the human genome.

It was a major breakthrough in science that would revolutionize genomics. However, the initial project and subsequent human genome sequence updates were not 100% complete. But now, scientists from the Telomere to Telomere Consortium (T2T) claim to have reached sequence the remaining 8% of the missing human genome.

“The Telomere to Telomere Consortium (T2T) has completed the first truly complete sequence of 3.055 billion base pairs (bp) of a human genome, which represents the biggest improvement in the reference human genome since its initial launch, ”the scientists wrote in an article published on the research server. bioRxiv, which means it has not yet been peer reviewed.

The new genome is a leap forward, said the researchers, who were made possible by new DNA sequencing technologies developed by two private companies: la Californienne Pacific Biosciences, also known as PacBio, and the British Oxford Nanopore. Their DNA reading technologies have very specific advantages over tools long considered fundamental by researchers.

“This 8% of the genome has not been neglected because of its lack of importance, but because of technological limitations”, the researchers wrote. “High-precision long-read sequencing ultimately removed this technological barrier, allowing comprehensive studies of genomic variation throughout the human genome. Such studies will necessarily require a complete and precise reference human genome, which will ultimately lead to the adoption of the T2T-CHM13 suite presented here. “

The genome the researchers sequenced does not come from a person, but of a hydatidiform break, a rare lump or growth that forms inside the uterus early in pregnancy. This tissue is formed when the sperm fertilizes a nucleus-less egg, so it only contains 23 chromosomes, like a gamete (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.

“You’re just trying to dive into this latest unknown in the human genome”, said STAT News Karen Miga, researcher at the University of California at Santa Cruz, who co-led the international consortium. “It’s never 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%, and that the number of genes that encode protein only increased by 0.4%, at 19,969. According to the researchers, the work could also lead to other new knowledge, particularly that related to how genes are regulated.

St. George’s Church, a Harvard biologist and sequencing pioneer, called the work “Very important”. He said he likes to point out in his lectures that So far, no one has sequenced the entire genome of a vertebrate, which is no longer true, if the new work is confirmed.

KEEP READING: