- the analysis of DNA recovered from archaeological remains, i.e. ancient DNA;
- the analysis of DNA from modern populations (including humans and domestic plant and animal species) in order to study human past and the genetic legacy of human interaction with the biosphere; and
- the application of statistical methods developed by molecular geneticists to archaeological data.
The topic has its origins in the study of human blood groups and the realisation that this classical genetic marker provides information about the relationships between linguistic and ethnic groupings. Early work in this field included that of Ludwik and Hanka Hirszfeld, William Boyd and Arthur Mourant. From the 1960s onwards, Luca Cavalli-Sforza used classical genetic markers to examine the prehistoric population of Europe, culminating in the publication of The History and Geography of Human Genes in 1994.
Since then, the genetic history of all of our major domestic plants (e.g., wheat, rice, maize) and animals (e.g., cattle, goats, pigs, horses) has been analysed. Models for the timing and biogeography of their domestication and subsequent husbandry have been put forward, mainly based on mitochondrial DNA variation, though other markers are currently being analysed to supplement the genetic narrative (e.g., the Y chromosome for describing the history of the male lineage).
The same expression was also used by Antonio Amorim (1999) and defined as: getting and interpreting [genetic] evidence of human history. A similar concept (even in a more ambitious form, as it included the recreation of inferred extinct states) has been developed in pre-DNA era by Linus Pauling and Emile Zuckerkandl (1963).
- Cann, R.L., Stoneking, M., and Wilson, A.C., 1987, Mitochondrial DNA and human evolution, Nature 325; pp 31–36
- Cavalli-Sforza, L. L., Menozzi, P., and Piazza, A., 1994, The History and Geography of Human Genes. Princeton: Princeton University Press.
- Renfrew, A.C., and Boyle, K.V., (Eds), 2000, Archaeogenetics: DNA and the population prehistory of Europe. Cambridge: McDonald Institute for Archaeological Research.
- Indian Genome Variation Consortium (2008). "Genetic landscape of the people of India: a canvas for disease gene exploration". Journal of Genetics 87 (1): 3–20. doi:10.1007/s12041-008-0002-x. PMID 18560169. 
- Amorim A (1999) Archaeogenetics. Journal of Iberian Archaeology 1: 15-25
- Pauling L, Zuckerkandl E (1963) Chemical paleogenetics: molecular restoration studies of extinct forms of life. Acta Chem. Scand 17: 89