More comprehensive human genomes

The first of these “sequencing” of our genes was done in the 1990s. Its completion, announced with great fanfare on June 26, 2000, was the result of more than a decade of work – the Human Genome Project – in six countries, at a cost of $2.7 billion. For the first time, rejoice, we have a list of all the so-called base pairs that make up our genes – a 3 billion letter “book” without spaces or punctuation.

There were two downsides. The first, which appeared immediately: there are still “holes” in these sequences. About 5-10% of the genome remained unknown. This task will occupy many experts for the next two decades: it took until 2021 to obtain the first genome qualified as ” Rebuilt from start to finish “.

But another downside won’t become clear until a few years later: Not only are there differences from one genome to the next, which are important, even if certain differences explain the diseases. But in addition to this, there are differences that appear in one form or another from one geographical area to another.

This is what you want to treat The project human pangenome. Its goal: to provide a more complete picture of all the variations in human genetics – including additions, subtractions, and other types of mutation. Its proponents use a metaphor: Instead of describing the human genome in a linear fashion – from A to Z – let’s describe it as a subway map, with its many branches.

The need became more evident when in 2018 the team to publish at nature genetics The sequences of 910 “African descent” people, consisting of approximately 300 million “letters”, or 10% of the total, are not found anywhere else, or at least not found in the sequenced genomes yet.

This project is not the first. Since 2012 there has already been the 1000 Genomes Project, which has also been focused on the idea of ​​diversity, but aims more specifically at cataloging variants, rare or non-rare, in 26 different groups. Although it only aims to obtain 350 genomes, Project Pangénome see more: wants genomes that represent the inhabitants of the planet, but in addition to that, Take advantage of these technological advances Which finally made it possible, for two decades, in 2021 to fill all these “gaps” in the previous sequences.