Abstract

Information about individual-level genetic ancestry is central to population genetics, forensics and genomic medicine. So far, studies have typically considered genetic ancestry on a broad continental level, and there is much less understanding of how more detailed genetic ancestry profiles can be generated and how accurate and reliable they are. Here, we assess these questions by developing a framework for individual-level ancestry estimation within a single European country, Finland, and we apply the framework to track changes in the fine-scale genetic structure throughout the 20th century. We estimate the genetic ancestry for 18,463 individuals from the National FINRISK Study with respect to up to 10 genetically and geographically motivated Finnish reference groups and illustrate the annual changes in the fine-scale genetic structure over the decades from 1920s to 1980s for 12 geographic regions of Finland. We detected major changes after a sudden, internal migration related to World War II from the region of ceded Karelia to the other parts of the country as well as the effect of urbanization starting from the 1950s. We also show that while the level of genetic heterogeneity in general increases towards the present day, its rate of change has considerable differences between the regions. To our knowledge, this is the first study that estimates annual changes in the fine-scale ancestry profiles within a relatively homogeneous European country and demonstrates how such information captures a detailed spatial and temporal history of a population. We provide an interactive website for the general public to examine our results.

Highlights

  • A genetic ancestry profile of an individual tells which proportion of the individual’s genome originates from each of the available reference populations

  • To distribute the results among general public, we provide an interactive website for browsing the municipality and region-level genetic ancestry profiles at https://geneviz.aalto.fi/genetic_ancestry_finland/

  • The most popular methods, such as f-statistics (ADMIXTOOLS)[6], principal component analysis (PCA) (e.g. EIGENSOFT)[7] or ADMIXTURE[8] are based on genotype frequencies of independent variants and explore ancestry on a time-scale of hundreds of generations

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Summary

Introduction

A genetic ancestry profile of an individual tells which proportion of the individual’s genome originates from each of the available reference populations. The most popular methods, such as f-statistics (ADMIXTOOLS)[6], principal component analysis (PCA) (e.g. EIGENSOFT)[7] or ADMIXTURE[8] are based on genotype frequencies of independent variants and explore ancestry on a time-scale of hundreds of generations. These methods may not be optimal for the studies of recent past or fine-scale relationships between subpopulations. We assess these questions within a single European country, Finland

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