A variant-centric perspective on geographic patterns of human allele frequency variation

• DOI: 10.7554/elife.60107
• Publication Date: 2020-12-22T00:00:23Z
• Authors: Arjun Biddanda; Daniel P Rice; John Novembre
• Keywords: 0301 basic medicine; Evolutionary Biology; Geography; QH301-705.5; Science; Q; R; population genetics; Genetic Variation; population structure; demographic history; human variation; 576; 03 medical and health sciences; Genetics, Population; Gene Frequency; data visualization; Medicine; Humans; Biology (General)

A key challenge in human genetics is to understand the geographic distribution of human genetic variation. Often genetic variation is described by showing relationships among populations or individuals, drawing inferences over many variants. Here, we introduce an alternative representation of genetic variation that reveals the relative abundance of different allele frequency patterns. This approach allows viewers to easily see several features of human genetic structure: (1) most variants are rare and geographically localized, (2) variants that are common in a single geographic region are more likely to be shared across the globe than to be private to that region, and (3) where two individuals differ, it is most often due to variants that are found globally, regardless of whether the individuals are from the same region or different regions. Our variant-centric visualization clarifies the geographic patterns of human variation and can help address misconceptions about genetic differentiation among populations.