23-Jul-2025
Complex genetic variation revealed in diverse human genomes
University of Washington School of Medicine/UW MedicinePeer-Reviewed Publication
Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are genetic code alterations that span more than 50 base pairs, the rungs on the DNA ladder. These changes were hard to detect until the recent advent of newer sequencing technologies and analytical algorithms, as well as larger collections of more complete, diverse human genomes. After identifying such variation between and within populations, it may be easier to determine if the differences result in disease or other traits, like helping our ancestors adapt to their environments.
- Journal
- Nature
- Funder
- NIH/National Institutes of Health, NIH/National Institute of General Medical Sciences, NIH/National Institute of Allergy and Infectious Diseases, NIH/National Cancer Institute, U.S. National Science Foundation, Ministry of Culture and Science of North Rhine-Westphalia, German Research Foundation, Howard Hughes Medical Institute, NIH/National Human Genome Research Institute, Jurgen Manchot Foundation, Dusseldorf School of Oncology