Complete Human Genome Sequenced for First Time In Major Breakthrough
The final eight percent of the human genome, which contains immune response genes and the keys to our big brain, has been mapped. x
Scientists have mapped an entire unbroken human genome for the first time, a milestone that completes the groundbreaking work started by the Human Genome Project decades ago, according to a motherlode of new studies published in Science and other journals on Thursday. The final stubborn gaps of the genome, representing about eight percent of this human blueprint, were filled by the Telomere to Telomere (T2T) consortium, an international team consisting of dozens of scientists. The achievement opens the door to a host of new discoveries about the genetic variation between people, the evolution of our species, and the treatment of genetic diseases.
“It turns out that these genes are incredibly important for adaptation,” Eichler said. “They contain immune response genes that help us to adapt and survive infections and plagues and viruses. They contain genes that are important in terms of helping us detoxify agents and they are very important in terms of predicting drug response.”
“But perhaps most interesting to me is they carry genes that make us uniquely human,” he continued. “About half of the genes that are thought to make our bigger brain, compared to the other apes, come specifically from these regions, which were absent in the original Human Genome Project-”
Working with just one version of the genome simplified the process of mapping out the remaining euchromatic genes, though the researchers acknowledged the limitations of working with one specific ancestral heritage. To get a better read on the incredible diversity of humans, the T24 consortium is partnering with the Human Pangenome Reference Consortium to fully map genomes from different lineages that will reveal, in unprecedented detail, how all humans are related to each other.
