Open AccessHuman genetic admixture through the lens of population genomics
Author(s) -
Shyamalika Gopalan,
Samuel Patillo Smith,
Katharine L Korunes,
Iman Hamid,
Sohini Ramachandran,
Amy Goldberg
Publication year - 2022
Publication title -
philosophical transactions - royal society. biological sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.753
H-Index - 272
eISSN - 1471-2970
pISSN - 0962-8436
DOI - 10.1098/rstb.2020.0410
Subject(s) - evolutionary biology , biology , population , population genetics , human genetic variation , natural selection , genetic architecture , selection (genetic algorithm) , diversity (politics) , trait , genomics , genetic diversity , population genomics , gene flow , genetics , genetic variation , human genome , quantitative trait locus , genome , demography , gene , computer science , artificial intelligence , anthropology , sociology , programming language
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’.