In -depth analyzes of the DNA of more than a thousand people reveal the most complete overview of the human genome to date, with clinical potential and clues about diseases such as cancer.
Two new studies published this Wednesday in They use advanced DNA sequence technologies to make the map of human genetic variation in greater detail. The findings, based on data from the 1000 genomes project, reveal structural changes so far invisible, with direct implications for knowledge of human biology and precision medicine that can improve the diagnosis and study of various diseases.
Since the end of Data collected from over 2500 people have been a continuous source of scientific discoveries. Now, with new technological tools, researchers from And from various partner institutions managed to go further and create the most complete maps of human genetic variation to date.
A new generation of DNA sequencing technologies now allows scientists to observe parts of the human genome that have so far been invisible – repetitive, complex or too variable regions to be analyzed with the existing methods.
“For a long time, our genetic references excluded much of the world’s population. This work captures the essential variation that helps explain why the risk of disease is not the same for everyone,” geneticist of Jackson Laboratory () and the Health Center of the University of Connecticut.
From the human genome project to the pangenoma
The first great advance in the knowledge of human DNA came in 2003, with the conclusion of which sequenced, for the first time, the full genome of a small group of people.
In 2007, the in order to make a map of the genetic diversity of individuals from different geographical origins. His data, published in 2015, include more than 2,500 genomes of people with various ascendencies. It was an important step in realizing what makes us unique and how genetic variations influence health.
The new study now released significantly expands this effort: Fills 92% of gaps that still left and makes a map of genetic variations with a level of detail and diversity never before reached.
6 billion bases or letters of DNA in 23 pairs of chromosomes contain the genetic instructions that transmit the characteristics inherited from the fathers
New Technology: Long Reading Sequence
The key to this new stage was the long reading sequence, a technology that allows you to analyze much larger fragments of DNA than the methods used until a few years ago. This allows you to assemble complete genomes and identify deep genetic changes, such as DNA parts that are eliminated, duplicated or exchanged of position.
“About 15 years ago, most of the sequence of human genome was based on ‘readings’ of small EXPER excerpts, which was not enough to set up a complete genome. However, for about five years, it has become possible to routinely sequence human genomes with new commercially available technologies that can decode much larger DNA, allowing us to assemble the full genome of individuals and evaluate all parts of the genome in search of genetic variation “,, researcher at the European Molecular Biology Laboratory (EMBL) and co -author of new studies.
These variations in DNA are associated with Several genetic diseases, including cancer, disturbances of the immune system and neurological diseases.
- Study 1: More than a thousand genomes from five continents
In the first of the studies now published, the researchers analyzed 1019 people genomes of the original set of project 1000 genomes, covering 26 populations of the five continents. Collaboration involved EMBL teams, the Vienna Molecular Pathology Institute (IMP), the Genomic Regulation Center (CRG) in Barcelona, and the UK EMBL-EBI.
Using the new technology, they were able to identify structural changes with unprecedented accuracy. This new genetic map has expanded the previous reference more than 20 times, used since 2023 with the International Project of Human Pangenoma. According to scientists, It will allow new connections between genetic changes and common diseases.
“The new map of this study is more accurate and deepened than any other created so far. It will allow us to look for new connections between genetic variations and diseases,” He stressed Sarah Hunt of the EMBL-EBI.
- Study 2: Fewer people, more details
The second study focused on only 65 individualsbut with an ambitious goal: to assemble complete genomes as accurate as possible with the full coverage of various chromosomes – something difficult to achieve due to the complexity and repetition of certain genetic zones.
With this data, it was possible to analyze zones so far inaccessible with traditional methods, such as centromers – chromosome binding points – which are associated with immune system disorders and cancer.
Both studies have important clinical implications. When used as a reference to analyze new genomes, the 1019 database allowed to more accurately identify disease -associated genetic variations compared to traditional methods.
“One of the studies wears a large cohort with lower resolution; the other has fewer individuals, but much more detailed sequence. The conclusions are complementary and enrich the portrait of the human genome,” Explicou Jan Korbel.
Precision medicine for more populations
In sequencing regions of the DNA that were considered too difficult to study, scientists established a new pattern for human genome analysis. According to Christine Beck, this advance helps ensure that the benefits of precision medicine reach all populations and not just to those most represented in previous studies.
“Our genomes are not static, just like our understanding. This is an essential step in making genetic research truly representative of human diversity.”
Data from the two studies are now publicly available and is already being used to develop new global genomic analysis methods.
