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But what does this tell us abut human history? First, note that the samples in this study were collected from Khotan, an ancient city along the southern edge of the Tarim Basin in Xinjiang. That’s all great I love medicine as much as the next person. Sometimes the substructure is going to be cryptic, and in other cases researchers need to be clear about the level of granularity necessary for any particular question. One can infer then that the original finding was simply due to the population substructure, and the correlation between allele B and disease X was due to the higher frequency of both these characters within a population as opposed to any causal relationship. Additionally, within this population allele B is not associated with disease X. But what if you find out later that your study group consisted of two historically distinct populations, and allele B is only found in one of these. This is important information which is going to be relevant for targeting and treatment. Imagine that you have a study group and allele B on gene 1 is strongly associated with a higher incidence of disease X.
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The rationale for these sorts of admixture studies is medical you need to know the genetic background of a population to make sure that you don’t infer spurious assocations due to population substructure. Another paper is out which falls under the category of using genetics to understand human history Analysis of Genomic Admixture in Uyghur and Its Implication in Mapping Strategy :
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