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Characterization of the genetic and environmental factors driving gene expression variability [thesis]

Anita Goldinger

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https://web.archive.org/web/20180726005024/https://espace.library.uq.edu.au/data/UQ_513994/AG_final_thesis_R1_submission.pdf?Expires=1532643789&Signature=QtajIu4GVvxxDc3cNPMogz27wo1F-bP9QB4gWJsEySHjQTmdB~4UcES6dO-5u7D9CozYWzwSmI9CblX1LcbMBXwTTGg~9YDmwm9oObSAtYtnOsm5quf7jP1FjcS88ZfFMbiQVG1QdzNynqnJOGKhZY57FRhvL7J7veE4JfPS3Ct58eUHqqRyQp~ZShD07jIKNa1bxtZ9QyWg7Kn3oEezA63xxy9OldYKDOpFvt9NxqiM7IH7FboGi8knpYXGczXqoWw7I4FwwHk-aKtM24wiu2P~xMFwHMQa9AiyoR5B4m23aadq3Mz2-G8goFDq6LGy7~SBWGBmVY6e4AR4KXzhKw__&Key-Pair-Id=APKAJKNBJ4MJBJNC6NLQ

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Gene expression variation is a quantitative trait that drives phenotypic diversity across populations. On a cellular level, gene expression is an intermediate phenotype between stored genetic information and the functional utilization of this information within the cell. Through Genome Wide Association Studies (GWAS), thousands of genetic polymorphisms associated with numerous diseases have been identified. These have provided many novel insights into the disrupted biological processes that
more » ... e the etiology of various health conditions.expression Quantitative Trait Loci (eQTLs) provide an additional layer of biological information about the physiological impact of common genetic variants. Booth, "The low EOMES/TBX21 molecular phenotype in multiple sclerosis reflects CD56+ cell dysregulation and is affected by immunomodulatory therapies.
doi:10.14264/uql.2017.463 fatcat:zc75ob55snestpqb3cysswgpti
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Anita Goldinger. "Characterization of the genetic and environmental factors driving gene expression variability."