Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 7 of 7 for “"somatic mosaicism"”.
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Somatic mosaicism in development and paediatric cancer
… of trillions of cells in adulthood, these somatic mutations are acquired throughout life either via endogenous errors in DNA replication or environmental DNA damage factors. Most of these somatic mutations land in the vast noncoding intergenic regions of the genome, marking cell lineage but …
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Decoding Brain Somatic Mosaicism with New Single-Cell Copy Number Analysis Methods
… represent a significant but understudied form of somatic variation in the human brain, with potential implications for neurodevelopment, aging and disease. While single-cell whole-genome sequencing (scWGS) enables genome-wide profiling at single-cell resolution, existing computational methods …
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Array-based genomic diversity measures portray Mus musculus phylogenetic and genealogical relationships, and detect genetic variation among C57Bl/6J mice and between tissues of the same mouse
… detected between and within tissues indicates somatic mosaicism. Genotype differences detected within a mouse are a complex mixture of technical errors and biological differences. Detailed reconstruction experiments are therefore required to determine array sensitivity at detecting true …
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Somatic variation, carcinogenesis and cancer risk in the lung
Somatic evolution is the driving force behind carcinogenesis, a principle recently underscored by discoveries in normal tissue. These discoveries have highlighted an underappreciated diversity of somatic mosaicism within every tissue and across individuals. Human tissue comprises thousands of …
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Gene-regulatory circuitry of disease risk and progression
… impairment. In my third project, I investigate somatic mosaicism as a source of cellular dysfunction and to uncover missing genetic determinants and mechanisms in AD. To do so, I develop methods to map mosaic burden in individual cells jointly with expression and find increased cell …
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Computational Insights Into The Generation of Chromosomal Copy Number Changes
… or acquired (originating in mitosis; “somatic mosaicism”). The complex structure and the diverse mechanisms generating CNVs have been studied molecularly, but this has generally not been attempted using population data. This dissertation seeks to provide insights into CNV diversity in …
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Epigenetic Heritability in Somatic Cells
Across the lifespan, cells accumulate somatic mutations, epigenetic alterations, tran- scriptional noise, mitochondrial damage and irreversible protein aggregation, the so-callled hallmarks of ageing. These molecular changes tend to worsen and compound over time, yet the mechanism through which …