Intraspecific sequence variation and complete genomes refine the identification of rapidly evolved regions in humans.

Complete genomes and intraspecific variation analysis reveal 1,596 rapidly evolved human regions linked to brain and heart development.

• Why it matters: Understanding the genetic basis of human-specific traits is hindered by incomplete reference genomes and reliance on single assemblies, limiting insight into evolutionary changes.
• What they did: By aligning 20 telomere-to-telomere assemblies from great apes and incorporating population variation, researchers identified Consensus HAQERs, regions with elevated mutation rates and regulatory activity.
• The result: These regions are enriched in disease-linked loci and active enhancers in brain and cardiomyocytes, providing new insights into human evolution and gene regulation across tissues.