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Inferences of Local Genetic Adaptation from Palaeolithic Hunter Gatherers

Cornish, Dean James; (2023) Inferences of Local Genetic Adaptation from Palaeolithic Hunter Gatherers. Masters thesis (M.Phil), UCL (University College London). Green open access

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Abstract

Ancient human genomes are an extremely powerful tool for exploring human demography and local genetic adaptation. Despite the thousands of genomes now available, there have been fewer amalgamated datasets focused on consistently processing samples created using different methods and filters. Therefore, I collated and processed a sample of 299 mostly publicly available ancient genomes sampling genetic diversity in Europe and recapitulating known clustering within ancient individuals. I made inferences of local genetic adaptation in 30 of the oldest Palaeolithic Hunter Gatherers, which were selected as they may reveal novel adaptations not detectable in younger individuals and or highlight earlier adaptations associated with the colonisation of Eurasia. I found many previously characterised candidates and one novel candidate in TCEA3. I also explored the advantage of incorporating ancient genomes in a test for Local Genetic Adaptation and observed a slight increase in candidates. Finally, I investigated functional annotations for the candidates of local genetic adaptation, highlighting some variants that may have influenced gene expression and disease risk and some which fall within Neanderthal- introgressed regions.

Type: Thesis (Masters)
Qualification: M.Phil
Title: Inferences of Local Genetic Adaptation from Palaeolithic Hunter Gatherers
Open access status: An open access version is available from UCL Discovery
Language: English
Additional information: Copyright © The Author 2023. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
URI: https://discovery.ucl.ac.uk/id/eprint/10170497
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