Human pangenome | The first genetic map of «all humanity» initiates another scientific revolution

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«We are before a milestone we had been waiting for for a decade«explains enthusiastically Tobias Marschall, a researcher at the Heinrich Heine University and one of the scientists who has contributed to the construction of the first ‘pangenome’ of our species (that is, the map of the genome of «all humanity»). The feat, published this Wednesday in the magazine ‘Nature’, includes the genome of 47 people of different origins and «even better reflects genomic differences in the population.»

«We are facing a milestone that we have been waiting for for a decade»

tobias marshall

The first genome map of «all humanity» includes samples from african people -the most genetically diverse population on the globe- American, Asian and European. In total, they have managed to collect 3.3 billion of the ‘letters’ with which our DNA manages to write who we are and what makes us different from others. The analysis of all these data has allowed us to identify 119 million base pairs new, 1,115 previously unpublished gene duplications and 104% more structural variants than those known to date.

Understanding the function of all these elements will be key to identifying everything that makes us unique. The most comprehensive studies to date have revealed that, on average, two individuals share about 99% of their genes. In that remaining 1% are hidden all those peculiarities that make us different and that, in a certain way, determines why some people have certain physical or psychological traitsmore predisposed to suffer certain diseases or, simply, a set of special characteristics.

Search for treatments

The publication of this new genetic database It has been defined as a true scientific revolution. Above all because, as explained by several of the experts who have contributed to the development of this atlas, all this information will speed up both investigations, diagnosis and the search for treatments of an infinity of diseases that evolve in humans (from the rarest genetic diseases to pathologies as prevalent as heart problems, cancer and neurodegenerative pathologies).

«The creation of the first human pangenome will accelerate clinical research»

Wen Wei Liao

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«The creation of the first human pangenome will allow speed up clinical research as it will improve our understanding of the between genes and disease traits«, says Wen-Wei Liao, a researcher at Yale University and one of the main authors of this work. «The first analyzes of this new genetic map of our species are already finding variants that had not been previously identified and that could help us to understand hitherto inexplicable genetic conditions», add the experts in the presentation of this international scientific project that has cost about 40 million dollars (the equivalent of about 36.5 million euros).

The project, far from being finished, hopes to continue expanding in the coming months to incorporate the genetic material of 350 people by mid-2024. «This is not the end of a project, but the beginning of a new era for the study of human diversity,» says Ting Wang, a scientist at the Washington University School of Medicine. «The new genetic map of humanity will continue to grow, expand and refine itself to accurately represent the genetic diversity of our species,» adds the expert.

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