The database reconstructs the 3,000 million letters that make up our DNA
Experts explain that this achievement could help, among other things, to understand diseases of genetic origin
The book of life it’s finally complete. Twenty years after the publication of the first major atlas of the human genome, a pioneering achievement for its time but with several gaps, an international team of scientists has succeeded in reconstructing the most complete sequence to date of the genes that characterize us as a species, with more than 3,000 million letters” that make up our DNA. The advance, published this Thursday in the prestigious scientific journal ‘Science’, represents an abysmal leap in knowledge of human DNA. “This advance will help us better understand which genes cause diseases and which personalized medicine tools we can use,” summarizes the scientific team that has led this work.
To understand the relevance of this advance, we must take a step back. Rather, a small jump in time. TO early 2000san international consortium of scientists led by James Watson published the first great mapping of human genes. The initiative, dubbed the Human Genome Project, was a virtually unprecedented scientific revolution. To achieve this, the experts used a system that allowed assemble small fragments of the chromosome through a bacterial cloning vector (also known as ‘bacterial artificial chromosome’). The technique, revolutionary at the time, allowed small genetic snapshots to be pieced together to form a global panorama of human DNA. But despite the extraordinary achievement, this tool left several loopholes.
Near to 8% of the human genome collected in the first great genetic atlas was, according to experts, incomplete, incorrect or duplicate. And this figure, although it may seem trivial, was an obstacle for scientists focused on the study (and understanding) of our DNA. The work presented this Thursday in Science, led by a consortium of thousands of scientists from around the world, not only achieves fill in these gaps but also get correct some of the lapses of previous genetic bases. “This work represents an important step in assembling models that represent all humans, which will better support personalized medicine, population genome analysis, and genome editing,” explains the geneticist. Deanna M. Church in a companion article published in ‘Perspectives’.
Telomere to Telomere
The new atlas of the human genome manages to reconstruct the genetic information of our species telomere to telomere. In other words, beyond the DNA sequences it also includes information about these key pieces that are found in the ends of chromosomes and they also play a important role in diseases such as cancer. According to experts, this new database adds information on 2,000 additional variants in the human genome. This information, in turn, provides more accurate data on more than 600 genes involved in medical pathologies relevant.
“The publication of this new database on our genetics is important, but we must also explain that between this work and the one presented 20 years ago there has not been a total vacuum. Knowledge about our genes it is something that has been refined over time and that has been gradually expanding in recent decades”, explains Abel Gonzalezassociate researcher at the IRB Barcelona Biomedical Genomics Laboratory and independent expert on the recently published study.
González, questioned by this newspaper, explains that the work published this Thursday is essentially a technical achievement. Something that has been possible thanks to the advancement of sequencing technologies in the last decade. “When the Human Genome Project was published, the technology of that time only allowed to reconstruct relatively small fragments of DNA. Now there are tools capable of assembling hundreds of thousands of sequences“, comments the scientist. “This work opens fundamental lines of study because the better the map we have of DNA, the better we can investigate its functioning”, adds the expert.
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Following the publication of this new genetic atlas, scientists enthusiastically explain the milestone that this work represents. “Finishing the sequence of the human genome was like putting on a new pair of glasses. Now that we can see everything clearly, we are one step closer to understanding what it all means,” said Adam Phillippy, a scientist at the National Genome Research Institute. Humano and one of the authors who has contributed to this work. “In the future, when someone’s genome is sequenced, we will be able to identify all the variants in your DNA and use that information to better guide your health care“, predicts the expert.
“Before we only had a more blurred image and now we have a sharp photograph,” summarizes Nicolas Altemose, a scientist at the University of California and one of the researchers who has led this work. “This information will strengthen efforts to understand all the functional nuances of the human genome, which in turn will promote genetic studies of human diseases”, adds Eric Green, from the scientific team that has made this scientific milestone possible.