The study of present-day human variation to explore past evolutionary events
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Date
2022-04-18
Authors
Blant, Alexandra
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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.
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Keywords
Central African Pygmies, Central African populations, anthropometry, standing height, human body proportions, human variation, autozygosity, bioinformatics method, autozygosity mapping, wLOD score, runs of autozygosity, 1000 Genomes Project dataset, population genetics, computational biology