Structural variation shapes regulatory and evolutionary diversity at the HLA locus (opens in new tab)

The human leukocyte antigen (HLA) region is among the most polymorphic loci in the human genome and plays a central role in immune function, yet the contribution of structural variation to its genetic and regulatory diversity remains poorly characterised. Using 460 phased, near-complete human genome assemblies from globally diverse populations, we systematically mapped structural variation and gene content across the HLA locus. We show that the HLA region contains substantially more structura...