Patterns of genome diversity and composition are driven by recombination in humans
Genomic diversity and composition evolve under diverse and complex constraints such as demography, selection, mutations, or genomic rearrangements. However, the influence of these evolutionary forces and their interactions remain to be fully understood. In that prospect, I will present two projects based on the human genome. First, I will use a population genomics approach and show that purifying selection at linked sites (i.e. background selection) and GC-biased gene conversion (gBGC) together affect as much as 95% of the variants of our genome. Their magnitude are largely determined by variation in recombination rate and base composition and previous reconstruction of human demography based on synonymous sites for instance are thus likely biased by these two mechanisms. However, when focusing on genomic regions with recombination rates above 1.5 cM/Mb and mutation types (C↔G, A↔T), the effects of background selection and gBGC are minimal. I will advocate to use these neutral regions to reconstruct demographies.…