The signatures of population history and natural selection on human genome variation

Anna Di Rienzo
University of Chicago
Human Genetics

Genetic variation data are informative about human population history. However, because evolutionary processes are highly stochastic, large multi-locus data sets are necessary to make reliable demographic inferences. Due to the high complexity of human history, distinguishing between alternative scenarios requires data with high information content. To this purpose, our laboratory is carrying out full re-sequencing studies of unlinked noncoding regions in several population samples. These efforts allow us to characterize multiple facets of genetic variation data and test competing hypotheses of human demography. These analyses revealed many departures from the neutral equilibrium model for the non-African population samples suggesting that demographic events such as bottlenecks and/or ancient structure underlie our observations. Under these circumstances, detecting the signature of positive natural selection becomes a greater challenge. Results on loci likely to carry such signatures will be discussed.


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