a key step against many diseases

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In the year 2000, when “the first complete sequencing of the human genome” was presented and Bill Clinton said that “we are learning the language with which God created life”, what really happened is that we were exaggerating a little. What we had in our hands was a draft and, although it was a titanic milestone in science at the time, the truth is that most of us did not understand it and there were parts that we could not even read. That it just finished.


8%. About 8% of the genome resisted us. Perhaps it was not the fundamental part, but it could be very important. After all, like the coins that are lost on the sofas at home, in those empty spaces of our sequences there could be things of great value. During these 20 years, researchers they have not left to work on it and today’s issue of Science brings six studies that solve (partially) the mystery.

And I say ‘partially’ because part of the “trick” used by the consortium that has managed to read that 8% is to use a special cell that is easier to read. In other words, it remains to be confirmed that there are no substantial differences between these regions of the genome in other human cells.

Fifteen years ago, sequencing the genome cost $2.7 billion.  Today it costs 599, less than a high-end mobile

A new reference genome. The result of this work is a new reference genome (called T2T-CHM13) that, in addition to correcting errors in the previous ones, adds about 200 million base pairs of new DNA sequences. The researchers have identified 99 genes that “probably” encode proteins and another 2,000 that still need further study.

A job that is not done yet. Although, as I say, genome sequencing is not considered closed, the importance of this discovery is that it gives us, for the first time, an overview of the entire genome. With its flaws and errors, the new reference genome will allow us to better understand how the genomic system works as a whole.

In the end, as I said Karen Crumb, a professor at the University of California at Santa Cruz and one of the coordinators of the project, “these parts of the human genome that we had not been able to study for more than 20 years are important to understand the functioning of the genome, genetic diseases and the diversity and human evolution”. The era of pangenomics has begun.

Image | Sangharsh Lohakare

In the year 2000, when “the first complete sequencing of the human genome” was presented and Bill Clinton said that…

In the year 2000, when “the first complete sequencing of the human genome” was presented and Bill Clinton said that…

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