Bergström, A. et al. Science 367, eaay5012 (2020).

Despite decades of exploration of human genetic variation, more data is still needed for a more complete and in-depth picture. Compared to genotyping arrays, whole-genome sequencing has the potential to avoid ascertainment biases and identify rare variants. Bergström et al. sequenced 929 human genomes to an average of 35× coverage from 54 populations that are geographically, linguistically and culturally diverse. Hundreds of thousands of previously undocumented variants were found to be common in one or more population, highlighting the value of sequencing diverse populations. Demographic analysis showed different population size histories and modes of population separation, reflecting the effects of migration and gene flow. Archaic introgression from Neanderthal and Denisovan groups were detected to various degrees. While Neanderthal ancestry was more likely to have resulted from one major episode of admixture, the history of Denisovan introgression appeared to be more complicated.