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Population Genetics, Selection, Drift, and Demography

Manual: General · Subject: Genetics

Quantify evolutionary forces that shape allele frequencies, genetic diversity, and disease risk across populations.

Allele frequency dynamics

Foundational equations

Population genetics models how mutation, selection, drift, migration, and recombination alter allele frequencies over time. Under Hardy-Weinberg assumptions, genotype frequencies follow p2p^2, 2pq2pq, and q2q^2 for alleles with frequencies pp and qq, but real populations often deviate because of nonrandom mating, structure, and selection.

Under Hardy-Weinberg equilibrium, what is the expected frequency of heterozygotes for alleles with frequencies pp and qq?

What does genetic drift describe?

Selection and demography

Evolutionary pressures

Selection can be directional, stabilizing, disruptive, balancing, or purifying. Demographic events such as bottlenecks, expansions, and admixture leave signatures that can mimic or obscure selection. Accurate inference therefore requires integrating allele frequency spectra, haplotype structure, and historical models.

Evolutionary forces

ForcePrimary effectTypical signature
SelectionNonrandom fitness differencesReduced variation or sweep signals
DriftRandom fluctuationLoss of alleles in small populations
MigrationGene flowAllele sharing across populations
MutationNovel variationLow-frequency new alleles
RecombinationBreakdown of LDHaplotype reshuffling

Which event can create a genome-wide reduction in diversity without requiring selection?

Why can demographic history confound tests for selection?

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Research application

Modern scans for selection often combine statistics from single variants, haplotypes, and site frequency spectra to improve robustness.