As we reach almost twenty years after the completion of the Human Genome Project, human genomics research is still not fully reflective of the diversity found globally. Understudied populations limit our knowledge of human genetic variation, and their inclusion is needed to ensure that they benefit from future developments in precision medicine. During my PhD, I aim to extend our understanding of global genomic diversity and its functional and medical implications by analysing whole genome sequencing data from two projects: the Human Genome Diversity Project, which is a collection of 54 global populations and through a project focusing specifically on Middle Eastern populations.