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

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dc.contributor.authorBlant, Alexandra
dc.contributor.examiningcommitteeTriggs-Raine, Barbara (Biochemistry and Medical Genetics)en_US
dc.contributor.examiningcommitteeLarcombe, Linda (Medical Microbiology and Infectious Diseases)en_US
dc.contributor.examiningcommitteePerry, George (Pennsylvania State University)en_US
dc.contributor.supervisorLiu, Xiao-Qing
dc.contributor.supervisorGarroway, Colin
dc.date.accessioned2022-08-24T11:35:37Z
dc.date.available2022-08-24T11:35:37Z
dc.date.copyright2022-08-23
dc.date.issued2022-04-18
dc.date.submitted2022-08-06T17:34:34Zen_US
dc.date.submitted2022-08-23T20:22:36Zen_US
dc.degree.disciplineBiochemistry and Medical Geneticsen_US
dc.degree.levelDoctor of Philosophy (Ph.D.)en_US
dc.description.abstractThis 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.en_US
dc.description.noteOctober 2022en_US
dc.identifier.urihttp://hdl.handle.net/1993/36737
dc.language.isoengen_US
dc.rightsopen accessen_US
dc.subjectCentral African Pygmiesen_US
dc.subjectCentral African populationsen_US
dc.subjectanthropometryen_US
dc.subjectstanding heighten_US
dc.subjecthuman body proportionsen_US
dc.subjecthuman variationen_US
dc.subjectautozygosityen_US
dc.subjectbioinformatics methoden_US
dc.subjectautozygosity mappingen_US
dc.subjectwLOD scoreen_US
dc.subjectruns of autozygosityen_US
dc.subject1000 Genomes Project dataseten_US
dc.subjectpopulation geneticsen_US
dc.subjectcomputational biologyen_US
dc.titleThe study of present-day human variation to explore past evolutionary eventsen_US
dc.typedoctoral thesisen_US
local.subject.manitobanoen_US
project.funder.nameNatural Sciences and Engineering Research Council of Canada, University of Manitobaen_US
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