Hardy-Weinberg, drift, selection, quantitative genetics, QTL, GWAS, coalescent theory.
Mendelian And Population Genetics
Hardy-Weinberg equilibrium
In an infinite, randomly mating, mutation/drift/selection/migration-free population, allele frequencies stay constant and genotype…
Genetic drift
Stochastic change in allele frequency from finite-population sampling. Variance ∝ 1/(2N_e). Drives fixation/loss of alleles on timescale…
Effective population size (N_e)
Size of an ideal Wright-Fisher population with the same drift magnitude as the real population. Usually N_e ≪ census N due to sex ratio,…
Natural selection
Differential reproduction of heritable variants. Selection coefficient s = 1 − w (relative fitness); time to fixation ~ (1/s)·ln(2N_e) for…
Neutral theory of molecular evolution (Kimura)
Kimura 1968: most molecular variation is selectively neutral, fixed by drift. Substitution rate per generation = neutral mutation rate μ…
Heritability
Proportion of phenotypic variance attributable to genetic variance. Broad-sense H² = V_G/V_P; narrow-sense h² = V_A/V_P (additive only).…
Genome-wide association study (GWAS)
Hypothesis-free scan of millions of SNPs for statistical association with trait/disease across large cohorts. Multiple-testing threshold p…
Linkage disequilibrium (LD)
Non-random allelic association at linked loci. Decays with recombination over generations; used in GWAS fine-mapping and detecting…
F-statistics (Wright)
FIT, FIS, FST partition heterozygosity among total population, subpopulations, individuals. FST measures genetic differentiation; key for…
Coalescent theory
Kingman 1982: trace lineages backward in time to most-recent common ancestor. Foundation of modern population genomics inference (PSMC,…
Wright-Fisher model framework
Idealised population-genetics model: discrete non-overlapping generations of constant size N; each individual in generation t+1 picks two…
Kimura neutral theory framework
Kimura 1968: most molecular variation within and between species is selectively neutral; substitution rate k = μ (per-site mutation rate)…
Mendel laws (1866)
G Mendel 1866 segregation + independent assortment; rediscovered 1900 by Correns/Tschermak/de Vries.
Hardy-Weinberg (1908)
Hardy-Weinberg 1908 equilibrium allele-frequency p^2 + 2pq + q^2; foundational population-genetics.
Modern synthesis (Fisher 1930)
Fisher 1930 + Haldane 1932 + Wright 1931 mathematical-modern-synthesis; integrating Mendel + Darwin; foundation of pop-gen.
Neutral theory (Kimura 1968)
M Kimura 1968 neutral-theory; modern nearly-neutral Ohta 1973; basis of molecular-clock + coalescent-theory.
Coalescent (Kingman 1982)
J Kingman 1982 coalescent-theory; modern ancestral-recombination-graph + ms / msprime simulators; basis of population-genomics inference.
STRUCTURE (Pritchard 2000)
Pritchard-Stephens-Donnelly 2000 STRUCTURE Bayesian admixture; modern ADMIXTURE + qpAdm + dystruct ancient-DNA-revolution.
Price equation (1970)
G Price 1970 Cov(w_i, z_i) + E(w_i Delta z_i); foundational text in evolutionary-genetics + multilevel-selection.
Infinitesimal model (Fisher 1918)
R A Fisher 1918 infinitesimal-model; reconciles Mendelian + biometry; foundational quantitative-genetics.
Breeding value (Falconer 1960)
D Falconer 1960 'Introduction to Quantitative Genetics'; modern BLUP genomic-prediction + GS livestock + plant.
Selection types
Darwin 1859 + 1868 natural vs artificial selection; modern domestication-genomics + GWAS-derived breeders' equation.
Effective population (Wright 1931)
S Wright 1931 effective-population-size Ne; modern Charlesworth 2009 Ne-Nc ratio review.
Polygenic score (Lambert 2021)
Lambert-Inouye 2021 PGS catalog; modern UK-Biobank + clinical-PGS Khera 2018 + 23andMe consumer.