Human genome, complete mapping: a complete and uninterrupted sequence of 3 billion bases of DNA was collected in the USA
For the first time, a complete, uninterrupted sequence of the human genome. The consortium scientists succeeded Telomere to Telomere (T2T)the National Human Genome Research Institute (NHGRI)dell’University of California in Santa Cruz andUniversity of Washington in Seattle, who published the results of their work in the journal Science. Almost 20 years after the launch of the Human Genome Project, experts comment, this important milestone will be fundamental for understanding the spectrum of human genomic variation. The team collected a complete, uninterrupted sequence of around three billion strands of DNA.
Human genome, full mapping: “An incredible scientific achievement. It will help studies on many diseases”
This work, the experts add, will also help answer basic biology questions about how i chromosomes they split up. The consortium discovered over two million new variants, which provide more accurate information on genomic variants within 622 clinically relevant genes. “Generating a sequence of the human genome truly complete represents an incredible scientific achievement – he declares Eric Greendirector of the NHGRI – and provides the first complete view of our DNA. This information adds to the many ongoing efforts to understand the functional nuances of the human genomewhich could contribute to genetic studies on many diseases. ”The sequencing was made possible thanks to the work of the Human Genome Project, which involved thousands of researchers and experts, who developed laboratory tools, computational methods and strategic approaches to improve the ability to decipher the genomic sequence. To report the findings, the scientists published six articles in the journal Science.
“Since we got the first draft of the human genome – he claims Evan Eichlerdell’University of Washington – determining the exact sequence of complex genomic regions was challenging. We are really excited about this milestone, even if we still have many questions to solve “.” Thanks to long reading methods – he observes Karen Migaco-chair of the T2T consortium and researcher at theUniversity of California in Santa Cruz – we have made progress in our understanding of the more difficult and repeating parts of the human genome. This sequence has already provided new information on the biology of the genome and we are really curious to know what else will be possible to understand thanks to this information. “