A new historic milestone, achieved thanks to the advantage of methods refined by over 20 years of research, the one cut by the Telomere-2-Telomere Consortium, the international research team that for the first time managed to sequence the complete human genome, coming to read some of the DNA regions that have so far remained unresolved, such as segmental duplications, or some blocks of repeated sequences that have so far hosted unexplored and consequently unknown fragments.

The team, led by Adam Phillippy of the National Humane Genome Research Institute in Bethesda, Maryland, and Karen Miga of the Genomics Institute of the University of California in Santa Cruz, thus addressed the remaining 8% of the hitherto unsolved genome, determining the complete sequence of 3.055 billion base pairs which, the researchers explain in the study published on the prepress server BioRiV, represent “the biggest improvement in the human genome since its initial publication“. For sequencing, the researchers used DNA from a human cell line called CHM13, obtained from tissues derived from unsuccessful egg fertilization, for which, the research team emphasized, there are no grounds for ethical problems.

Overall, the sequencing of the unsolved regions led to the identification of 63,944 genes compared to 60,090 of the last result achieved in 2019. As for the segmental duplications, described in a related study and published in pre-print always on BioXRiv, sequencing revealed that these structures “account for nearly a third of the additional sequence, increasing the estimate of the whole genome from 5.4% to 7% (218 million base pairs)“And that the same”show a greater diversity of single nucleotide variation than single regions”.

Understanding of segmental duplications – said Evan Eichler of the Department of Genome Sciences at the University of Washington School of Medicine who coordinated this second study – it is crucial because some of these are the basis of genetic disorders”.

Finally, in a third study, the research team looked at DNA methylation, an important regulator of genetic expression processes in eukaryotic cells, to understand which regions are most activated or deactivated through this epigenetic mechanism. “When neoplasms develop – explained Winston Timp of Johns Hopkins University in Baltimore who led the study on the epigenetic pattern in the sequenced genome – can occur alterations at the level of entire chromosomes. In the long run, understanding the mechanisms that determine cell division and the role that methylation might play could point the way to new cancer treatments”.

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