Human genetic admixture through the lens of population genomics

Over the past 50 years, geneticists have made great strides in understanding how our species' evolutionary history gave rise to current patterns of human genetic diversity classically summarized by Lewontin in his 1972 paper, 'The Apportionment of Human Diversity'. One evolutionary process that requires special attention in both population genetics and statistical genetics is admixture: gene flow between two or more previously separated source populations to form a new admixed population. The admixture process introduces ancestry-based structure into patterns of genetic variation within and between populations, which in turn influences the inference of demographic histories, identification of genetic targets of selection and prediction of complex traits. In this review, we outline some challenges for admixture population genetics, including limitations of applying methods designed for populations without recent admixture to the study of admixed populations. We highlight recent studies and methodological advances that aim to overcome such challenges, leveraging genomic signatures of admixture that occurred in the past tens of generations to gain insights into human history, natural selection and complex trait architecture.This article is part of the theme issue 'Celebrating 50 years since Lewontin's apportionment of human diversity'.

Automated summary

Geneticists have made significant progress in understanding human genetic diversity, particularly in the field of admixture population genetics. Admixture is an important evolutionary process that affects genetic variation and evolution between populations. Overcoming limitations in studying admixed populations using traditional methods, researchers have leveraged genomic signatures to gain insights into human history, natural selection, and complex trait architecture.