Human genetic variation

Human genetic variation is the diversity of DNA sequences and inherited genetic traits among people. It reflects mutation, inheritance, population history, migration, and natural selection.

Genetic variant: A difference in DNA sequence among individuals or genomes. Variants are the basic units used to describe genetic differences.
Mutation: A heritable change in DNA sequence. New mutations introduce variants not previously present in a lineage.
Human evolution: The evolutionary history of humans and their ancestral lineages. Modern genetic diversity emerged through evolutionary changes in human populations.
Genome-wide association study: A study testing genetic variants across many genomes for statistical association with a trait or disease. These studies use variation to identify genomic regions associated with human traits.
Human genetic diversity: The range of genetic differences found among human individuals and populations. Its distribution shows that variation is extensive within populations as well as between them.
Single-nucleotide polymorphism: A common DNA variation at one nucleotide position in a population. These frequent one-letter differences are widely used in human genetic studies.
Genetic recombination: The exchange and reshuffling of DNA segments during reproduction. Recombination creates new combinations of existing variants.
Out of Africa theory: The model that modern humans originated in Africa and later expanded across the world. The expansion shaped global patterns of ancestry and genetic diversity.
Pharmacogenomics: The study of how genetic differences influence responses to medicines. Inherited variants can affect drug metabolism, efficacy, and adverse effects.
Race and genetics: The study of how social racial categories relate, and do not map neatly, to genetic variation. Genetic patterns do not divide humanity into discrete biological races.

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