For two decades the reference genome human has been our bible in research on biology, disease and evolution. Today there is finally the prospect of something better: the first embryo of a human pangenome. A "collection" of 47 genomes of different ancestral origins, which will replace the old model based on a limited number of genomes, and promises to revolutionize genetics.
Pangenome: what and how
The future, a new benchmark in genetics, is the result of the collaboration between 14 institutions gathered in a consortium called Human Pangenome Reference Consortium. This work will greatly improve efforts to pinpoint the DNA variations responsible for many health conditions, thus facilitating the search for treatments.
The pangenome is based on data from the 1,000 Genomes Project catalog, organized using advanced computational techniques. As he explains Benedict Paten, a biomolecular engineer at the University of California, Santa Cruz, the pangenome will be “inclusive and representative” of all humans.
The importance of genetic diversity
Even though our genomes are identical for more than 99%, that 1% difference plays a fundamental role in making each individual unique. The old reference genome could not cover all these variations: the new pangenome will be able to do so, providing several reference points at the same time.
In short, we will have a more complete resource for researchers and doctors: a resource that will help us eliminate the so-called "reference bias", i.e. an analysis influenced by the data on which it is based.
Improved performance and new opportunities for genetics
The new model turned out to be 34% more accurate at finding small variations and even 104% more accurate at finding larger structural variations, the hardest ones to spot.
Thanks to the greater quantity and diversity of data, the pangenome will also allow us to better distinguish between the chromosomes inherited from parents, which is fundamental for studying the inheritance of diseases.
Everyone has a unique genome. For this reason, in genetic research the use of a single reference sequence for each person can lead to inequities in the analyses..
Adam Phillippy, geneticist and computer scientist at the National Human Genome Research Institute in Maryland, USA
The next steps
This new pangenome will require new methods of analysis and access, and the team that created it is committed to making it as accessible as possible.
Recall that this is only a first draft: the researchers hope to include 350 genomes in the pangenome by mid-2024.
Within two years, it will be an exciting time for geneticists, evolutionary biologists, medical researchers and scientists eager to increase our understanding of the human body.
The research was published on Nature , here , , here e , here , come on Nature Biotechnology .
Good job!
