New Human Genome Map Unveils Key Genetic Variation for Precision Medicine
- Jul 24
- 2 min read
Following more than two decades of advancements since the culmination of the Human Genome Project, science has made a monumental leap. An international team of researchers, including scientists from the University of Washington, The Jackson Laboratory, Clemson University, and the European Molecular Biology Laboratory (EMBL), has published the most extensive catalog of human genetic variation ever compiled, promising a new era for precision medicine, thanks to this new human genome map.
Published in the journal Nature this Wednesday, the study delved into the human genome of 1,084 individuals from diverse populations around the world. Using long-read sequencing technologies (PacBio HiFi and Oxford Nanopore Technologies), scientists managed to map the "structural variants" of DNA—large segments of the code that can be deleted, added, flipped, or moved—with unprecedented detail.
What makes this work especially revealing is that it has unearthed "hidden" features of the genome that were previously technologically unreachable. This includes vast portions of so-called "junk DNA" or "repetitive DNA," which were believed to be non-functional. Now, we know these sequences are not "junk," and this study sheds light on them. More than half of the newly discovered genomic variation was found in these repetitive regions, including "jumping genes" or transposons, which can destabilize the genome and contribute to diseases like cancer by "hijacking regulatory sequences" to increase their activity.
The findings are broad and profound:
Structural Variants (SVs): Up to 26,115 structural variants per individual were identified, with a total of more than 175,000 sequence-resolved events. This is a critical advance, as structural variants are more likely to alter gene expression, and understanding them is fundamental for diseases.
Detailed Centromeres: 1,246 centromeres—essential structures for cell division—were completely assembled, revealing up to 30-fold variation in their length. Furthermore, there were indications that approximately 7% of centromeres might have two binding sites for cell division fibers (di-kinetochores), a purely speculative idea that can now be explored.
Clinically Relevant Regions: The study successfully resolved the sequences of crucial genes such as SMN1/SMN2, associated with spinal muscular atrophy, and the Major Histocompatibility Complex (MHC), vital for immune function and susceptibility to autoimmune diseases.
The diversity of the samples used—65 individuals from 5 continents and 28 population groups—is crucial. The study revealed that samples of African ancestry showed the greatest structural variance, underscoring the importance of including diverse populations to counteract the historical bias towards European ancestry in reference genomes.
This new map of the human genome and its genetic variation not only fills 92% of previously inaccessible genomic data "gaps" but also provides an open and accessible basis for other scientists to delve into the genetic basis of diseases. It is, in the words of Jan Korbel, co-author of the study, as if geneticists have been presented with a "new microscope" to see the true complexity of human genetic variation for the first time. This advancement is a clear sign of where the field of genetics is heading: towards much more personalized genetic diagnoses and treatments, marking a milestone in precision medicine.
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