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

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.

人类遗传学的一个关键挑战是了解人类遗传变异的地理分布。通常，遗传变异是通过展示种群或个体之间的关系来描述的，并对许多变异进行推断。在此，我们引入一种遗传变异的替代表示方法，它揭示了不同等位基因频率模式的相对丰度。这种方法使观察者能够轻松看到人类遗传结构的几个特征：（1）大多数变异是罕见的，且在地理上是局部的；（2）在单个地理区域常见的变异更有可能在全球范围内共享，而不是该区域所特有的；（3）当两个个体存在差异时，最常见的原因是在全球范围内都能发现的变异，无论这两个个体来自同一区域还是不同区域。我们以变异为中心的可视化方法阐明了人类变异的地理模式，并有助于解决关于种群间遗传分化的误解。