Our genome not only determines the appearance and function of our body, but also influences our risk of different diseases. Based on newly sequenced genomes from the 1000 Genome Project, researchers have now gained the most complete insight into human genetic material. They came across numerous previously unknown variants that influence the metabolism, the immune system and the risk of cancer, among other things. The results form a basis for further research and can pave the way to personalized medicine.
The basis of many diseases lies in small changes in our genome. Knowing them can therefore help to recognize and treat such diseases. The 1000 genome project, which was completed in 2015, already provided initial insights into the variety of human genetic engineering, it included genomic data of more than 2500 people. At that time, however, the DNA could only be sequenced in short sections. In this way, complex regions with many repeating elements could not be mapped.
Analysis of long DNA sections
Now a research team led by Siegfried Schloissnig from the Vienna Biocenter and Samarendra Pani from the Heinrich Heine University Düsseldorf 1019 has again sequenced the genome collected. The researchers used the new method of the so-called long-Read sequencing, which enables long DNA sections with thousands to tens of thousands of base pairs in a row. In this way, for example, it can be seen when DNA sections doubled, deleted or vice versa in individual individuals.
The genomes examined come from volunteers from 26 populations from five continents on earth. The extensive data set helps to create a collective human reference genome with which individual genomes can be compared. “The variants in a diverse cohort of healthy people is essential to understand which variants in genomes of patients can be the cause of the available diseases,” explains Panis colleague Dagmar Wieczorek.
Center, immune complex and jumping genes
In a second study, a team led by Glennis Logsdon from the University of Washington in Seattle 65 Genome from the data record examined more precisely. The researchers sequenced 1161 chromosomes completely from one end to the other – also the difficult -to -access centromers, i.e. the places in which the two chromosome strands are connected to each other in cell division. Among other things, the analyzes revealed that the DNA changes faster in this region than before. The researchers suspect that this quick adaptation helps to keep the centromers functional, but also to adapt to changed conditions. However, the study also provides a basis for researching how variations in these regions affect, for example, immuns and cancer.
In addition to the centromers, this study also provided more detailed findings about some special dense gene regions on the male sex chromosome as well as about the Major Histocompatibility Complex (MHC), which is important for the function of our immune system, on Chromosom 6. This complex gene region is involved, among other things, in combating pathogens, but also in autoimmune diseases. Modifications in this area could therefore reveal why some people are more susceptible to certain diseases than others. Logsdon and his team also mapped more than 12,900 so -called transposons – mobile, “jumping genes”, which can clink into different places of the genome and then change genetic activity significantly.
According to Jan Korbel from the European Laboratory for Molecular Biology (EMBL) in Heidelberg, which was involved in both studies, the two publications provide a complementary picture. “The first study uses less powerful sequencing methods, but works on the basis of a much larger cohort, while the second study is based on a smaller cohort, uses more advanced sequencing methods,” he explains. “This enables us to gain extremely robust and precise insights into the genetic variation of our inheritance.” Together, both studies have now created a comprehensive reference for medicine and gene research, which researchers around the world can now be used to better understand the mechanisms of human genomic variations and the genetic origins of many diseases.
Sources: Siegfried Schloissnig (Vienna Biocenter, Austria), Samarendra Pani (Heinrich-Heine-Universität Düsseldorf) et al., Nature, DOI: 10.1038/S41586-025-09290-7; Glennis Logsdon (University of Washington School of Medicine, Seattle, USA) et al., Nature, DOI: 10.1038/S41586-025-09140-6
