Milestone for the medicine of the future, the map of the human genome completed

03 June 2021 8:30 pm

Realized the “dream” that the scientific community has built after years of research. This opens the way to detailed knowledge of each single chromosome

The new map now includes 3.9 billion base pairs, against the 3.2 billion of the first sequence of the human genome obtained twenty years ago and also includes the “missing” 8% of DNA.

DNA without secrets – The research constitutes “a significant step forward from a technical point of view”, commented the director of the Human Technopole, Iain Mattaj. In 2000, when a first mapping of the human genome was made known, the technology did not allow sequencing those stretches of DNA that repeat very frequently and make up about 5% of the human genome.

The new data they were obtained from uncommon human cells, which have two identical sets of the same 23 chromosomes, but it is a proof of principle that it will now be possible to obtain complete genome sequences. In addition to highly repeated DNA sequencing, which is thought to be involved in both gene expression regulation and genome evolution, the research reveals 3,400 new protein-coding genes, 4% more than those identified in the draft genome.


Milestone medicine future map human genome completed

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