populationgenomic

Population genomics is the study of genome-wide genetic variation within and between populations, integrating population genetics with high-throughput sequencing data. It seeks to understand how evolutionary forces such as drift, migration, mutation, and natural selection shape genetic diversity over time and space.

Data and methods: Researchers use whole-genome sequencing, exomes, and dense SNP arrays across many individuals, sometimes augmented by ancient DNA. Analyses include estimating allele frequencies, analyzing population structure (principal component analysis; model-based clustering such as ADMIXTURE or STRUCTURE), and measuring differentiation with Fst. Demographic history is inferred from the site frequency spectrum or coalescent-based methods (PSMC, MSMC, SMC++, SFS-based inference). Detecting selection, admixture, and gene flow are common goals.

Applications: Human population genomics illuminates human evolution, migration routes, and demographic events; medical genomics uses population data to control for structure in association studies and to identify population-specific disease risk and pharmacogenomic variation. In non-human species, population genomics informs conservation genetics, breeding, and ecological research.

Data resources and ethics: Public resources include the 1000 Genomes Project, HapMap, and gnomAD, along with region-specific datasets. Ethical considerations include informed consent, privacy, data sharing, and governance, with attention to Indigenous data sovereignty and equitable access to research benefits.