In 2000, when the “first complete sequence of the human genome” was presented and Bill Clinton said, “We are learning the language in which God created life,” what really happened is that we exaggerated a bit. We had an outline, and although it was a huge milestone in science at the time, the truth is that most of us didn’t understand and there were even parts we couldn’t read. This is just over.

8%. About 8% of the genome resisted us. Maybe it wasn’t the essential part, but it could have been very important. After all, there can be something very valuable in those empty spaces of our TV shows, like coins lost on sofas at home. During those 20 years, researchers have not stopped working on it, and today’s Science issue brings in six studies that (partially) solved the mystery.

And I say ‘partially’ because part of the “trick” used by the consortium that managed to read 8% is to use a custom cell that is easier to read. In other words, it has not been confirmed that there are no significant differences between these regions of the genome in other human cells.

A new reference genome. The result of this work is a new reference genome (called T2T-CHM13), which adds approximately 200 million base pairs of new DNA sequence, as well as correcting the errors in previous ones. The researchers identified 99 genes that “possibly” encode the proteins, and another 2,000 genes that need further research.

A job not yet done. As I said, although the genome sequencing is incomplete, the significance of this discovery is that it gives us, for the first time, an overview of the entire genome. The new reference genome, with its flaws and errors, will enable us to better understand how the genomic system as a whole works.

Ultimately, as Karen Miga, a professor at the University of California at Santa Cruz and one of the project’s coordinators, says, “it is important to understand these parts of the human genome that we haven’t been able to study for more than 20 years: how the genome works, genetic diseases, and human diversity and evolution.” The pangenomic era has begun.

Image | Sangharsh Lohakare