Estrutura populacional e dinâmica da miscigenação na América Latina: pipelines genéticos, seleção natural e métodos de inferência

Abstract

The Latin-America genetic structure shows signs from diverse historical events, including pre-Colombian population expansions and the admixture events post-Colombian. The acknowledgment of the populational structure can elucidate these events, once it results from the interaction of the population with evolutive agents. The first chapter of this dissertation presents pipelines and methods used for genetic structure in two levels: family structure and populational structure, considering haplotype- and genotype-based methods. Furthermore, I present our flowcharts from the Genetic Human Diversity Laboratory (LDGH), used in our projects and collaborations. Our pipelines aim to include populations underrepresented in the world genomic scenario, such as admixed and Native American populations, once this gap affects the applicability of precision medicine globally. Therefore, initiatives such as the Peruvian Genomes Project became increasingly relevant to answer the calls for more population diversification in human genetics studies. The second chapter of this dissertation addresses the population structure, natural selection and differentiation of SNVs in native Americans from Peru, presenting inferences about pre-Colombian history and its influences on the distribution of two genetic variants of pharmacogenetics importance. In the post-Colombian context, there are still historical gaps in the colonization process that occurred 500 years by past in the Americas. The third chapter of this dissertation brings the implementation of a demographic model, and a pipeline based on approximated Bayesian computation to infer the admixture dynamics from global and local chromosomic ancestries, recovered from previous work from our group and implemented with more accurate tools for population genetics inferences.