The study of present-day human variation to explore past evolutionary events

Abstract

This work examines present-day human variation from two distinct perspectives and methodologies: Chapter 2 catalogs morphological characteristics of 337 Central African Pygmies and non-Pygmies and provides a novel perspective on the body proportions of Pygmy groups as compared to their non-Pygmy neighbours. The latter sets the stage for downstream genetic studies to inform on the molecular mechanisms which underpin biological scaling and the evolutionary histories of populations inhabiting the Congo basin. Chapter 3 describes a bioinformatics method (wLOD) to detect genomic signals of relatedness (autozygosity) in worldwide populations. The performance of wLOD is assessed in both simulated and next-generation sequencing data of various marker density and is shown to have comparable or improved performance to several other publicly available tools. More broadly, the work presented here explores the distribution and properties of autozygous regions at different ancestral depths and demonstrates the ability of wLOD (and other autozygosity detection tools) to shed light on the role of recessive variation in human diversity and on the overarching effect of limited gene pools of past generations on the genomic architecture of present-day populations.