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  • Book
    Alicia R. Martin.
    Digital2015
    One of the biggest challenges in the field of genetics currently is to identify genetic variation that influences human phenotypes, and to elucidate the mechanism by which these variants act. This thesis provides insights into technological biases in detecting diverse genetic variation, explores how regulatory variation differs across divergent human populations, and assesses the genetic architecture and evolutionary adaptation of pigmentation variability in one of the oldest modern human populations. The chapters of this thesis apply population genetic principles to provide a better mechanistic understanding of the forces that shape phenotypic diversity across humans. Chapter 2 evaluates current array design strategies for genotype imputation using differing platforms, methodologies, and across different 1000 Genomes populations. Chapter 3 assesses transcriptome variation across 7 populations from the Human Genome Diversity Project (HGDP) in lymphoblastoid cell lines. Chapter 4 explores the genetic architecture and evolutionary history of lightened skin pigmentation in the southern African Khomani San and identifies novel loci associated with pigmentation. Together, these chapters highlight the importance of diverse human population studies for methodological and technical development as well as to identify a broader mechanistic understanding of phenotypic variability.