Demographic Inference in Population Genetics
Summary
Demographic inference uses genetic variation to reconstruct past population size changes, splits, migrations and admixture events. By modelling the stochastic processes that shape genetic diversity—such as genetic drift, mutation and gene flow—researchers infer historical parameters that underpin species evolution and interaction. Methods range from coalescent-based approaches tracing lineages back to common ancestors to allele frequency-spectrum analyses summarising the distribution of variants across samples. Advances in sequencing technology, ancient DNA recovery and computational algorithms have driven finer temporal resolution, enabling studies of recent bottlenecks, expansions and introgression in humans, wildlife and domesticated species. These insights inform conservation strategies, archaeological interpretation and our understanding of how environmental and cultural shifts have moulded genetic diversity worldwide.
Research from Nature Portfolio
Recent studies have introduced a haplotype-based framework for inferring effective population size variation over the past two millennia. By combining identity-by-descent and linkage disequilibrium measures, this method delivers improved accuracy in both modern and ancient low-coverage data sets. It reconstructs fine-scale demographic events—such as rapid declines, recoveries and regional expansions—with fewer computational resources, facilitating inclusion of underrepresented populations and heterogeneous sampling times.
Demographic Inference in Population Genetics publication trend
The graph below shows the total number of articles in demographic inference in population genetics across all publications each year (not limited to Nature Index journals).
Technical terms
Effective population size: The size of an idealised population that would exhibit the same amount of genetic drift as the observed population.
Identity-by-descent (IBD): Segments of DNA inherited from a common ancestor without recombination.
Linkage disequilibrium: Non-random association of alleles at different genomic loci due to shared ancestry or selection.
Site frequency spectrum (SFS): The distribution of allele frequencies at polymorphic sites within a sample.
Approximate Bayesian Computation (ABC): A simulation-based, likelihood-free method for inferring demographic parameters by comparing observed and simulated summary statistics.
References
- Haplotype-based inference of recent effective population size in modern and ancient DNA samples. Nature Communications (2023).
- Temporal matches between monarch butterfly and milkweed population changes over the past 25,000 years. Current Biology (2023).
- Efficiently Inferring the Demographic History of Many Populations With Allele Count Data. Journal of the American Statistical Association (2019).
- Models of archaic admixture and recent history from two-locus statistics. PLOS Genetics (2019).
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