Scientists have created the first sequence of the human genome without a vacuum. The Telomere-to-Telomere Consortium officially released its findings on Thursday. Advances in technology have allowed the team to follow the recently unveiled sections.
It’s all here – the human genome, that is. Scientists announced on Thursday that they had mapped the human genome without gaps for the first time – 19 years after the completion of a “substantially finished” version of the Human Genome Program. A team of about 100 scientists, the Telomere-to-Telomere Consortium (T2T), was able to publish the “most complete human genome to date,” Elizabeth Pennisi wrote in an introductory article for the project in the journal Science. Their findings were first announced in 2021, but this week marks the official publication of the research. The original sequence did not contain about 8% of the human genome, mainly because the technology available at the time was not reasonably capable of decoding it, according to researchers at the project. Some have called it “junk DNA”, but other researchers have found evidence over the years that it could contain clues to issues ranging from autism to aging and otherwise unexplained illnesses, experts told Stat in 2017. According to Eric Lander, who led the original research team, it was difficult to decode certain parts of the genome because when computers read DNA, they actually split a puzzle and see which pieces fit. But the “junk DNA” areas were often very repetitive, so if the pieces of the puzzle are very similar, it’s hard to match them. Now, the new computing power means that “our puzzle pieces just got a lot bigger and that allowed us to reunite these areas of the genome,” said Adam Philippi of the National Institute for Human Genome Research, who helped with the project. . on the BBC. The new reference genome could help scientists understand which genes contribute to various disorders, because some cells become cancerous and more variations from person to person, such as tolerance for high altitudes, wrote NBC. The story goes on It could also be a step closer to having everyone have easy access to their own genome, Phillipy told NBC. “Within 10 years, acquiring a complete, fully accurate human genome will be a routine part of healthcare and will be cheap enough that it will not be a second thought – a laboratory test for less than $ 1,000,” he told the agency. “You will have the whole genome in your pocket.” Gene processing technology has also been hot ground for recent biotech startups, such as Mammoth Biosciences, which has developed a new enzyme to make more accurate DNA changes. Although this was a huge leap, there is more to discover, said Karen Miga, one of the founders of the Telomere-to-Telomere consortium. “Our work is not over. We still have a long way to go as a team to complete not just the genome but a set of genomes that best represent the genetic and genomic diversity around the world,” he said in an accompanying video. The announcement. Read the original article in Business Insider
