Thoughts on Estimating Ancestry

Use of genetic markers to determine population relationships has a long history extending back to the use of the ABO blood group system in the early 20th century. In the middle of the last century, the field of genetic anthropology got a great boost with the documentation by Harris (1969) of extensive protein polymorphism in humans. The blood group and protein polymorphism data accumulated globally were integrated and published in the book “The History and Geography of Human Genes” by Cavalli-Sforza et al. (1994). By then, the interest in “blood groups” for anthropology was already declining because of the demonstration of polymorphism directly in the autosomal DNA by Kan and Dozy (1978a, 1978b) and then in mitochondrial DNA (mtDNA) by Cann et al. (1987). The number of documented DNA polymorphisms in the nuclear DNA increased exponentially in the first decade after 1978 (Figure 1) and has now reached millions (Abecasis et al., 2010; Auton et al., 2015). The amount of anthropological population data for mtDNA variation also increased greatly during the 1990's and continues today. It already was abundantly clear by the late 1980's that the number of autosomal DNA polymorphisms (then known as restriction fragment length polymorphisms — RFLPs) exceeded all previous types of human genetic markers for anthropological research. In 1994, Cavalli-Sforza started organizing what would become the Human Genome Diversity Project.

(Publisher abstract provided.)