Business
HiFi Reads Enable Telomere-to-Telomere Consortium to Fill the Final Gaps in the Human Genome, Heralding a New Era of Research into Genetic Diseases and Human Biology
Science magazine publication details how the human genome was finally completed with the help of PacBio long-read technology MENLO PARK, Calif., March 31,
About this update from Pacific Biosciences Of California, Inc.
[{"type":"text","content":"Science magazine publication details how the human genome was finally completed with the help of PacBio long-read technology\nMENLO PARK, Calif., March 31, 2022 (GLOBE NEWSWIRE) -- PacBio (NASDAQ: PACB), a leading provider of high-quality, highly accurate sequencing solutions, announced today PacBio’s essential contribution to the completion of the first truly complete human reference genome. The Telomere-to-Telomere (T2T) Consortium, an international team of scientists from the US National Human Genome Research Institute and dozens of other institutions worldwide, published “The complete sequence of a human genome” in the latest edition of Science, along with a series of companion papers highlighting novel aspects of the complete genome. As reported in the Science paper, researchers searching for the genetic keys to unlock complex regions of the genome to variational and functional analysis, including in connection with genetic disease, now have the first truly complete human reference genome. The paper describes how scientists used HiFi sequencing to produce the first complete assembly of a human genome: all three billion base pairs across 23 chromosomes including the centromeres, telomeres, and other large repeats. The newly assembled regions cover a full eight percent of the human genome previously inaccessible with earlier technologies. “The T2T Consortium’s work could help scientists better understand human biology and evolution. Most importantly, it could one day ultimately change the lives of millions of people by helping researchers better understand the genomic basis associated with potentially dozens of genetic diseases, and eventually identify cures or therapeutic options for them,” said Christian Henry, President and Chief Executive Officer of PacBio. “As reported in this exciting paper, by leveraging PacBio HiFi sequencing technology, the T2T Consortium has achieved a goal that scientists around the globe have been pursuing for more than 30 years – a truly complete human genome sequence, one that can potentially help create the basis for a complete medical genome to better human health. We look forward to seeing other scientists follow in their path helping the community further understand the full breadth of genetic diversity and its link to human health.” The complete, T2T assembly of a human genome marks a new e...