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Direct Characterization of Cis-Regulatory Elements and Functional Dissection of Complex Genetic Associations Using HCR–FlowFISH
(Springer Science and Business Media LLC, 2021-07-29)
Abstract: Effective interpretation of genome function and genetic variation requires a shift from epigenetic mapping of cis-regulatory elements (CREs) to characterization of endogenous function. We developed HCR-FlowFISH, ...
Characterization of transcription factor function during human gametogenesis via directed differentiation
(2022-06-06)
It is estimated that one in ten people in the US struggle with infertility. Access to human germline cell types for study is limited, and little is known about the underlying genetic regulation of human gametogenesis. In ...
High-throughput functional characterization of regulatory variants related to human evolution and disease
(2022-05-18)
Evolutionary genetics is at an exciting crossroads due to the growing ability to functionally characterize non-coding regions enabled by high-throughput genomic technologies. Although coding sequence differences between ...
Harnessing Advances in Genomics and Molecular Genetics to Inform Understanding of P. vivax Epidemiology, Evolution, and Drug Resistance
(2022-04-28)
Plasmodium vivax and Plasmodium falciparum are two parasites that cause most malaria cases worldwide. P. vivax is chronically understudied compared to P. falciparum, and significant aspects of its biology remain a mystery. ...
Transcriptomic analyses of brain white matter in human neurodegenerative tauopathies
(2020-11-23)
Neurodegeneration is a debilitating process defining diseases such as Alzheimer’s disease (AD) and chronic traumatic encephalopathy (CTE). Research on neurodegeneration has focused on neuronal tau protein accumulation, ...
The Plastic and Adaptive Evolutionary Potential of Nonstructural Carbohydrates in a Temperate Tree Species
(2020-09-28)
The ability to undergo plastic and evolutionary change in adaptive traits is key for plant survival under future climate change. Both processes require genetic variation in adaptive traits within populations. Thus, for my ...
Quantitative analysis of clonal architecture across the human cerebral cortex using somatic mutations
(2021-07-12)
The human cerebral cortex shows remarkable functional specialization into regions devoted to motor, sensory, or visual functions, and these functional areas correlate with dramatic differences in cellular composition, or ...
On the evolution of sex and its consequences
(2020-09-25)
This dissertation is an empirical and theoretical examination of the evolution of sex, sex-determining mechanisms, and sexual selection. Chapter 1 surveys adult sex ratios across species and populations of Anolis lizards ...
In situ epigenomics across length scales
(2022-09-09)
Chromatin is spatially organized across length scales, from DNA base pairs to chromosomes to tissues. This organization, which is encompassed in the term epigenomics, is thought to regulate gene expression and control ...
AGE REVERSAL BY TRANSCRIPTOMIC REPROGRAMMING
(2022-11-23)
Aging is a progressive multifaceted functional decline of a biological system. Chronic age-related conditions such as cancer, cardiovascular, and neurodegenerative diseases are leading causes of death worldwide. As the ...