Research: A super-map of human DNA opens the door to personalized medicine.

The most complete map of the human genome obtained to date opens the way to personalized medicine and tailored therapies , decoding complex, previously elusive DNA variations that influence a wide range of characteristics, from digestion to immune response to muscle control, and thus play a crucial role in many diseases. This significant advance in understanding the human genome is the result of two large-scale international studies published in the journal Nature and led by the European Molecular Biology Laboratory (EMBL) and the Heinrich Heine University of Düsseldorf, Germany . The new map builds on two key successes achieved in recent years: the first complete sequence of a single human genome, published in 2022, and the first draft pangenome representing global genetic diversity, obtained in 2023 from 47 individuals. The new data, which have been made publicly available, significantly expand both efforts, filling 92% of the remaining gaps thanks to new technologies that allow much longer DNA sequences, up to tens of thousands of bases, to be read in one go and interpreted correctly. "About 15 years ago, most human genome sequencing was based on 'reads' of small stretches of DNA, insufficient to reconstruct a complete genome," says Jan Korbel of EMBL, who coordinated the researchers with Tobias Marschall of the University of Berlin. "However, for about five years now, it has become possible to systematically sequence human genomes thanks to new commercially available technologies," Korbel comments, "capable of decoding much longer stretches of DNA."