Stanford University, USA
Posters & Accepted Abstracts: J Mol Genet Med
In the emergent field of population genomics, increasing attention has been paid to the role of admixed DNA in generating knowledge about human difference, disease susceptibility, and migration history. In this talk, I draw attention to the Hardy├ó┬?┬?Weinberg Equilibrium (HWE), a widely used but little-analyzed mathematical concept upon which much of the necessary calculations in these studies is based. The mathematical elegance and simplicity of the HWE is dependent upon six idealistic preconditions, among them panmixia, or random mating, that are rarely found in the natural world, let alone in human societies. I demonstrate the surprising, seemingly paradoxical way in which the HWE is employed in these studies as exclusionary criterion for candidate genes. Specifically, SNPs which do not fall within a certain margin of the ideal HWE proportions are excluded from further analysis. As a result, a set of highly specific, unlikely, and possibly nonexistent patterns of human mating are reflected in the genes and subsequent published studies. I argue that the implications of this have been obscured by the equation├ó┬?┬?s own elegance and ubiquity, and recommend that contemporary admixture genomicists acknowledge more explicitly the mathematical limitations of this simplified model. Additionally, I assert the special importance of methodological rigor and careful reflection in studies that bear heavily upon issues of race, resource distribution, health and identity.
Molecular and Genetic Medicine received 3571 citations as per Google Scholar report