The suite of phenotypic diversity across geographically distributed human populations is the outcome of genetic drift, gene flow, and natural selection throughout human evolution. Human genetic variation underlying local biological adaptations to selective pressures is incompletely characterized. With the emergence of population genetics modeling of large-scale genomic data derived from diverse populations, scientists are able to map signatures of natural selection in the genome in a process known as selection mapping. Inferred selection signals further can be used to identify candidate functional alleles that underlie putative adaptive phenotypes. Phenotypic association, fine mapping, and functional experiments facilitate the identification of candidate adaptive alleles. Functional investigation of candidate adaptive variation using novel techniques in molecular biology is slowly beginning to unravel how selection signals translate to changes in biology that underlie the phenotypic spectrum of our species. In addition to informing evolutionary hypotheses of adaptation, the discovery and functional annotation of adaptive alleles also may be of clinical significance. While selection mapping efforts in non-European populations are growing, there remains a stark under-representation of diverse human populations in current public genomic databases, of both clinical and non-clinical cohorts. This lack of inclusion limits the study of human biological variation. Identifying and functionally validating candidate adaptive alleles in more global populations is necessary for understanding basic human biology and human disease.

整个地理分布人群的表型多样性组合是整个人类进化过程中遗传漂移，基因流动和自然选择的结果。人类遗传变异潜在的局部生物适应选择性压力的特征不完整。随着对来自不同种群的大规模基因组数据进行种群遗传学建模的出现，科学家们能够在称为选择作图的过程中绘制基因组中自然选择的特征图。推断的选择信号还可以用于鉴定潜在的适应性表型的候选功能等位基因。表型关联，精细作图和功能实验促进候选自适应等位基因的鉴定。在分子生物学中使用新技术对候选适应性变异进行功能研究正在慢慢开始阐明选择信号如何转化为构成我们物种表型谱的生物学变化。除了告知适应性进化假说外，适应性等位基因的发现和功能注释也可能具有临床意义。尽管在非欧洲人群中进行选择作图的努力正在增长，但在当前的公共基因组数据库中，无论是临床人群还是非临床人群，在不同人群中的代表性仍然不足。这种缺乏包容性限制了人类生物学变异的研究。