Nature, Published online: 23 July 2025; doi:10.1038/s41586-025-09140-6

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

How changes in genome-wide technologies have allowed for the discovery and analysis of genetic variation, and how these discoveries have impacted our understanding of human genetic disease.

Nature, Published online: 19 October 2022; doi:10.1038/s41586-022-05325-5

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.