Scientists discover mutation hotspots in the human genome

Scientists have identified specific regions in the human genome, called "mutation hotspots," where DNA is highly susceptible to developing permanent changes. These hotspots are located at transcription start sites, where DNA is opened for copying, making them vulnerable to damage and imperfect repair. This discovery could be crucial for understanding genetic diseases. The findings, based on analysis of large genome datasets, help explain the origin of DNA mutations and may improve studies of genetic conditions, particularly those involving de novo mutations.