3
Analysis of Population Structure
Per Sjödin, Lucie Gattepaille, Pontus Skoglund, Carina Schlebusch,
and Mattias Jakobsson
Abstract
For humans, like any sexually reproducing diploid organism, mating may be
random in the sense that individuals are equally likely to mate and produce
offspring. Such a view of a population has been important in population genetics
as a basis for modeling and analysis. Population structure denotes deviation
from this panmixia, regardless of the cause. In this chapter, we will briefly
discuss random mating, populations, population structure, and various methods
and practices to infer population structure among individuals from empirical
genome-wide data.
3.1
What Is Population Structure?
A loose definition of a “panmictic population” is any collection of randomly
mating individuals living at a specific point in time. Strictly speaking, a population
is “randomly mating” if the probability to produce offspring is larger than zero
P. Sjödin · L. Gattepaille ·
Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden
P. Skoglund
Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden
The Francis Crick Institute, London, UK
C. Schlebusch · M. Jakobsson ()
Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden
Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Department of Anthropology and Development Studies, Centre for Anthropological Research,
University of Johannesburg, Auckland Park, South Africa
e-mail: mattias.jakobsson@ebc.uu.se
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2021
K. E. Lohmueller, R. Nielsen (eds.), Human Population Genomics,
https://doi.org/10.1007/978-3-030-61646-5_3
47
Analysis of Population Structure
Per Sjödin, Lucie Gattepaille, Pontus Skoglund, Carina Schlebusch,
and Mattias Jakobsson
Abstract
For humans, like any sexually reproducing diploid organism, mating may be
random in the sense that individuals are equally likely to mate and produce
offspring. Such a view of a population has been important in population genetics
as a basis for modeling and analysis. Population structure denotes deviation
from this panmixia, regardless of the cause. In this chapter, we will briefly
discuss random mating, populations, population structure, and various methods
and practices to infer population structure among individuals from empirical
genome-wide data.
3.1
What Is Population Structure?
A loose definition of a “panmictic population” is any collection of randomly
mating individuals living at a specific point in time. Strictly speaking, a population
is “randomly mating” if the probability to produce offspring is larger than zero
P. Sjödin · L. Gattepaille ·
Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden
P. Skoglund
Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden
The Francis Crick Institute, London, UK
C. Schlebusch · M. Jakobsson ()
Human Evolution, Department of Organismal Biology, Uppsala University, Uppsala, Sweden
Science for Life Laboratory, Uppsala University, Uppsala, Sweden
Department of Anthropology and Development Studies, Centre for Anthropological Research,
University of Johannesburg, Auckland Park, South Africa
e-mail: mattias.jakobsson@ebc.uu.se
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2021
K. E. Lohmueller, R. Nielsen (eds.), Human Population Genomics,
https://doi.org/10.1007/978-3-030-61646-5_3
47