What's eight percent?
A comparatively small remainder if practically nothing was previously known about a large data packet.
Or they mean quite a lot if the sequence of the human genome is only 92 percent, imprecise and with numerous gaps, i.e. by no means as “complete” as has been announced and celebrated time and again over the past two decades.
But now the time has finally come: Last week in the specialist magazine "Science", scientists from the "Telomere-to-Telomere Consortium" (T2T) presented a new reference genome, which now maps our genome with 3.05 billion bases and around 63,500 genes and the short "arms" of the five so-called acrocentric chromosomes 13, 14, 15, 22 and 21 have been added, which were previously missing.
Not because they were overlooked
competition for inheritance
In June 2000, the first raw version of the human genome was presented to the world public: the four letters GATC, on which the genetic code is based, made headlines and even filled entire newspaper pages in long rows of letters.
At that time, the American geneticist Craig Venter, with the help of private investors, challenged the publicly financed and internationally active "Human Genome Project", in which German research institutes were also involved.
At the same time, this sparked an ethical discussion about whether human genetic information could be patented, and if so, who had the right to it?
Who is allowed to use the genetic information medically, let alone market it pharmaceutically?
In fact, the competition accelerated the decoding of the genome and the genes it contains, which had begun in 1990, and in April 2003 it was considered complete for the first time, the project declared over.
And the sequences are now stored in gene banks, to which scientists have unrestricted access for comparative analyses, whether to better understand diseases or to research human evolution.
We also had to learn that the pure DNA sequence does not provide all the interesting information anyway: It has been a long time since we could do without epigenetics, which is why the T2T consortium is also providing fresh data on this.
So the work of the geneticists was far from over in 2003.
Bit by bit, over the years, it was added with progressively faster and cheaper methods;
the total costs are said to have amounted to around five billion dollars.
The Y chromosome was last deposited as a reference in January 2022.
This in turn was missing in the current genome called T2T-CHM13 because only the X sex chromosome could be sequenced well with the special cell line used for this purpose, but it has now been submitted later.
And even if medical research is a few steps further as a result: Despite all the precision, we have not reached our goal.
If we can ever achieve that at all, it will only be with a view to the human "pangenome",
that wants to represent the genetic diversity of mankind with more than 300 reference genomes in high quality.
And if we want to understand human heritage, we can of course only do this by taking the genetic information of other primates and animals into account.