Genetics Commons^™

Du Undergraduate Showcase Abstracts: Research, Scholarship, And Creative Works, Sophia Wismar, Henry Staats, Allison Metzler, Chloe Puckett, Rachel Levine, Christa Kilpatrick, Scott Wolf, Joe Walsh, Grace Doolittle, John Engebreston, Zoe Lopez, Christopher Aaby, Audrey Duff, Timothy Sisk, Katelyn Lamberton, Angela Narayan, Gilkah Argueta, Habiba Samir, Girena Tesfazghi, Genet Kenore, Sinit Tesfamariam, Effley Brooks, Abi Newell, Megan Doherty, Natalie Baer, Lexi Blood, Talya Riciputi, Jessica Jimenez, Devin Hernandez, Lynn Clark, Taj Kumar, Sunil Kumar, Allen Rutman, Mira Pronobis, Tess Carson, Anna Sher, Frankie Stroud, Tamra Pearson D'Estree, Alyssa Wilson, Emily Melnick, Jenalee Doom, Yihang Gao, Gwendolyn Geiger, Noah Gettle, Scott Nichols, Clare Ayoub, Cara Dienno, Sunny Walker, Zoe Hansen, Maya Wheeler, Addison Rice, Patrick Martin, Sanjana Acharya, Daniel Mcintosh, Amanda Mckellips, Calli Cain, Justin Blake, Peter Sokol-Hessner, Natalie Miller, Max Weisbuch, Sophia Dellota, John Macikas, Charlotte Snow, Mark Siemens, Zoe Lynch, Alex Huffman, Prachi Shah, Jason Roney, Halcyon Levi, Nicole Herzog, Andrea Koly, Daniel Linseman, Annie London, Xi Yang, Avery Zwisler, Jane Smith, Chaz Contag, Michael Kerwin, Lucy Rand, Grace Schroeder, Michelle Rozenman, Nissa Tapper, Guiming Zhang, Mateo Mazariego-Halpern, Keith Meyer, Julie Do, Dakota Park-Ozee, Travis Herink, Kara Neu, Jonathan Plomin, Eve-Odine Duchaufour, Debbie Gale Mitchell, Tennyson Anderson-Stricklin, Lily Treitz, Samantha Rosenberger, Sierra Griffith, Finley Joseph, Daniel Sampson, Emmy Davis, Skyler Kasnoff, Evon Lopez, Vivian Nguyen, Cassy Young, Franklin Sellner, Martin Tobon, Ila Graham, Zach Billings, Holden Hedit, Decatur Boland, Paul Kosempel, Cory Chandler, Jay Mahoney, Sam Dragan, Susan Dagget, Yarrow Ator, Heidi Vuletich, Owen Weber, Andrew Kloeppel, Petersen Gray, Mandi Schaeffer-Fry, Razleen Bassra, Bryanna Rodriguez, Christina Blue, Taubie Sanders, Rachel Epstein, Luke Milburn, Camryn Evans, Ezra Martinez, Mary Westwood, Gabri Notov, Robin Tinghitella, Lilou Cabrol, Eli Barbour, Juliet Mendik, Selma Myers, Zac Wise, Noah Fahlin, Michelle Knowles, Abigail Hopper, Michael Greenberger, Romi Laclair, Sarah Watamura, Sabrina Efroymson, Casey Barker, Sydney Seltzer, Bryn Yehle, Jennifer Hoffman, Sara Garcia, Ryuka Nagamine, Trevor Briggs, Remy Le Boeuf, Elena Krone, Eileen Farrell, Regan O'Rourke, Elena Roel, Greg Mortimer, Ali Ayoub, Stefani Langehennig, Caitlin Turk, Logan Scmid, Stefan Chavez-Norgaard, Karen Kim, Tatiana Peccedi, Courtney Cassidy, John Sebesta, Rhianna Lewis, Janice Bening-Lacek, Vivian Lawless, Mckenna Hanson, Jeffrey Amidon, Riya Joshi, Ram Ambre, Brady Worrell, Perrin Schneider, Ali Azadani, Brooke Agulnek, Lyndsie Salvagio, Elise Siemanowki, Yan Qin, Andre Allen, Melodie Nguyen, Megan Livengood, Abby Reams, Saffron Hartreeve, Bri Wylie, Sarah Brookman, Mariah Loiacono, Green Russo, Abhia Lodhi, Gabrielle Welsh, Nika Spehar, Shahked Levin, Evrim Baykal, Kimberly Chiew, Jocelyn Torres, Kailey Hicks, Mykaela Tanino-Springsteen, Audrey Bellows, Akam Chahal, Madeline Tepper, Shannon Murphy, Alexa Fonseca, Deborah Han, Cassandra Perez, Oluwatoyin Alaba, Julia Roncoroni, Vy Nguyen, Nana Burn, Sarah Sasse, Rubin Tuder, Anthony Gerber, Nancy Lorenzon, Christine Vohwinkel, Camryn Gunter, Tristan Weber, Sam Rommel, Brian Michel, Muskan Fatima, Alannah Oleson, Kira Frey, Edward Garrido, Beckett Morris, Kerstin Haring, Drew Middleton, Abigail Walpert, Liam Dee, Gabby Ishaw, Cole Carnes, Maddie Weiser, Claire Fox, Valeriia Vlasenko, Kateri Mcrae, Riley Smith, Abigail Templin, Kushani Rajapaksha

DU Undergraduate Research Journal Archive

Abstracts from the DU Undergraduate Research Showcase.

Investigating The Taxonomic Uncertainties Of Potentilla Rupincola, Natalie Elizabeth Hieber

Master's Theses

Landscape stewardship is an integral role for land managers that becomes more important when rare or endangered species occur within managed areas. Conservation across the landscape is a primary concern for land managers, but resources allocated for conservation can be limited due to many competing goals. Taxonomic uncertainty surrounding rare and endangered taxa, particularly plant taxa, that have historically been classified solely using morphological features further complicates conservation planning. One such taxon is Potentilla rupincola, a rare plant endemic to the eastern Rocky Mountains in Colorado. For over a century, botanists have debated whether P. rupincola is a distinct species …

Dissecting The Etiology Of Alcohol Use Disorder By An Integrative Heritable Component Approach, Ivy Garrenton

Computer Science Theses & Dissertations

Alcohol Use Disorder (AUD) is a pervasive condition characterized by complex interplay among genetic, phenotypic, and environmental factors. Although previous studies have identi fied genetic loci associated with alcohol consumption, these efforts have not captured the genetic heterogeneity and gene-environment interactions underlying AUD pathogenesis. To address this critical gap, we developed a novel statistical methodology that integrates phenotypic, genotypic, and environmental data through an environmentally modified Genetic Relationship Matrix (GRM) to derive AUD-related traits with enhanced heritability.

This approach demonstrated superior performance in both simulated and real-world datasets. Traits derived using the environmentally modified GRM exhibited significantly higher estimated heritability …

Toward Interpretable Multi-Omics Multimodal Biomedical Artificial Intelligence, Yanjun Lyu

Computer Science and Engineering Dissertations

The complexity of human disease arises from biological processes that unfold across multiple scales, from molecular variation through cellular function, tissue organisation, brain phenotypes, each of which is associated with distinct measurement modalities, regularities, and characteristic. Contemporary biomedical artificial intelligence has brought the opportunity to reveal the complexity with in; however, its methodological default, in which models are trained on most readily available modality, does not adequately engage with the multi-scale connected structure by which biological meaning is constituted. The research area of multi-omics and multi-modal AI for biomedicine remains at an early exploratory stage, and the work presented in …

Computational And Ai Frameworks For Identifying Key Regulatory Genes And Their Target Genes In Plants And Humans, Md Khairul Islam

Dissertations, Master's Theses and Master's Reports

This dissertation presents computational and AI-driven frameworks for identifying key regulatory genes and their downstream targets across plant and human biological systems. Three studies address distinct challenges in genomic regulation using advanced machine learning and bioinformatics approaches.

The first study introduces DyGAF (Dynamic Gene Attention Focus), a dual-attention transformer framework that identifies and ranks disease-relevant biomarker genes by simultaneously modeling independent molecular responses and interdependent regulatory network behavior. Two attention models provide complementary perspectives on gene importance and are fused through a novel combination metric. Applied to COVID-19 nasopharyngeal swab profiles, the attention-weighted representations achieved 94.23% classification accuracy, high sensitivity, …

Overview And Methods Of Molecular Paleontology: A Review, Shelby Touchstone

Williams Honors College, Honors Research Projects

Molecular paleontology—the study of ancient biomolecules preserved in fossils and sediments, including ancient DNA, lipids, and proteins—has motivated researchers since the 1950s, inspiring both scientific inquiry and broader cultural imagination. Think Jurassic Park. This honors thesis presents a comprehensive review of the history, current state, and methods of the field of molecular paleontology. Drawing on peer-reviewed literature and scholarly resources accessed through databases such as EBSCO and Bierce library, this review examines key techniques such as Next Generation Sequencing and amino acid racemization and will go over limitations and controversies in the field. It will also explore potential new …

The Forensic Implications Of Hydrochloric Acid (Hcl) Exposure On Dna Preservation In Human Teeth, Shaelyn Lee Zimmerman

Graduate Student Theses, Dissertations, & Professional Papers

Identity is a human right, and forensic anthropological methods are often aimed at returning identity to decedents. Three main pathways are used for the identification of human remains: fingerprints, dental records, and DNA analysis. Identification efforts may be hindered when perpetrators attempt to obscure the victim’s identity. In cases where corrosive substances, such as hydrochloric acid (HCl) are used, dental comparison and fingerprinting often fail and genetic analysis becomes the best chance of achieving personal identification.

Previous studies have shown teeth are an excellent source of DNA. Large, multi-rooted teeth, such as molars, are often preferred because they contain the …

From Morphology To Machine Learning And Genomics: Understanding Phenotypic Variation In Wild Ducks, Sara Gonzalez

Open Access Theses & Dissertations

Understanding the genetic underpinning and distribution of phenotypic variation within and between divergent groups is core towards shedding light into how populations diverge and adapt, as well as how hybridization breaks or builds on these scenarios; and thus, central to evolutionary biology. In wild organisms, however, quantifying and linking phenotypic traits to underlying genetic processes, like mutation, gene expression, epigenetics and allele interactions, remains challenging. This difficulty arises from the complex interplay between morphology, environment, and gene regulation, as well as the logistical barriers of collecting and standardizing large-scale data across individuals and populations. As a result, researchers are increasingly …

Bioaccumulation Pattern Of Per- And Polyfluoroalkyl Substances (Pfas) In Fish Tissues From Two Freshwater Systems, Margaret D. Taiwo, Husam Kafeenah, David D. Duvernell, Michael O. Eze

Biological Sciences Faculty Research & Creative Works

Per- and polyfluoroalkyl substances (PFAS) are known for their persistence, ubiquity, bioaccumulation in different matrices of the environment and their detrimental effect on human health. In this study, we used EPA 1633 to examine the prevalence of ten PFAS compounds in two freshwater systems and investigated their bioaccumulation pattern across different tissues of grass carp fish (Ctenopharyngodon idella), common carp (Cyprinus carpio), and flathead catfish (Pylodictis olivaris). Among the PFAS compounds analyzed, PFBS exhibited the highest concentration in the freshwater sample, exceeding the U.S. EPA regulatory limit of 4 ng/L for drinking water. The total PFAS concentrations in the muscle, …

Performance Analysis Of Computational Methods For Predicting Protein Function In Rare Diseases, Aichetou Mohamed Sidiya, Hanin Alzaher, Razan Almahdi, Tayeb Brahimi

Effat Undergraduate Research Journal

Protein function prediction is crucial for understanding the underlying mechanisms of rare diseases. With the increasing availability of computational methods including machine learning-based approaches, network-based methods, and sequence-based methods, predicting protein functions has become more accessible. However, it is not clear which of these methods performs better or how they compare to each other in terms of accuracy, efficiency, and scalability. In this study, we evaluate several computational methods for predicting protein functions in rare diseases using key performance indicators (KPIs). We analyze the strengths and weaknesses of each method and provide recommendations for researchers and clinicians interested in using …

Enhancing Cataract Surgery Outcomes: Optimal Use Of Pre- And Post-Operative Eye Drops, Keith Skolnick M.D., Anu Valiaveedu

Mako: NSU Undergraduate Student Journal

Many preoperative and postoperative cataract patients struggle with comprehending the use of prescription medication as directed. Language barriers and low health literacy levels are major factors contributing to improper use of prescriptions. To increase patients comprehension, the Fort Lauderdale Eye Institute employed an educational intervention consisting of a live presentation and an instructional video. Results found that 44% of patients were hesitant to ask questions to clinical staff, 32% felt overwhelmed, and nearly 70% lacked confidence in using their prescribed eye drops. Following the intervention, 91% of patients reported increased confidence in their medications, and most indicated that the video …

Du Undergraduate Showcase Abstracts: Research, Scholarship, And Creative Works, Kabe Aberle, Nadia Kako, Kateri Mcrae, Brooke Agulnek, Sky Palmon, Yasmine Ramirez, Francisca Aguirre Beltran, Ashley Juarez, Bridget Kim, Tessa Appel, Sterling Kerr, Spencer Ingley, Gabe Meyer, Robin Tinghitella, Dale Broder, Lily Baeza, Chloe Beers, Julia Coakley, Whitney Kelsey, Sydney Gainforth, Gabi Wing, Audrey Martin, Aaliyah Amore Berry, Brooke Watley, Kiruthika Venkatesan, Rachel Bienstock, Annabella Brotherston, Madison Bryant, Mia Burgener, Emma P. Lieb, Rachel A. Johnson, Jennifer L. Hoffman, Kania Campbell, Kiena Campbell, Courtney Cassidy, Sage Krzyzkowski, Maddox Jones, Skylar Abookire, Luke Hawkins, Sunnah Yoon, Andrea Chu, Yan Qin, Nyah Cubbison, Brian Gearity, Daniel Mcintosh, Mariely Cruz, Edward Garrido, Grady Dionne, Nicole Doris, Lyndsie Salvagio, Ann-Charlotte Granholm-Bentley, Anna Dymov, Hannah Eckert, Gabrielle Welsh, Erica Larson, Charlie Ernst, Anna Zhou, Sarah Watamura, Larissa Fedorovich-Klein, Georgie Fields, Kimberly A. Guevara, Aven Mccall, Ben Peltier, Feruz Yahia, Patrick Flores, Jadyn Floyd, Sophia Forcier, J. Von R. Monteza, Peter Sokol-Hessner, Gwendolyn Geiger, Scott Nichols, Camryn Gunter, Kendal Hengst, Charlie Bednarz, Issy Garside, Addison Baker, Rachel Mina, Brooke Hermanson, Amanda Klingler, William Highfill, Sydney Jaques, Kerstin Lewey, Allison Grossery, Daniel Linseman, Ethan Lim, Jagger Livengood, Owen Mantelli, Gabby Pappas, Abby Mcdonald, Madeleine Dierking, Eve Miller, Emma Loeber, Anna Marlow, Michael Kerwin, Ella Mathews, Hillary Hamann, Khadija Mohamed, Vivian Nguyen, Gabri Notov, Ifunayachi Ogbonna-Ukuku, Sunil Kumar, Charles Baysah, Sarah Olson, Don Sullivan, Anna Paradiso, Jay Parrish, Mira Pronobis, Alisha Pravasi, Kerstin Haring, Diego Ramirez, Christopher Reardon, Juliana Ramirez, Casey Doherty, Ella Kestner, Teagan Weindel, Cate Billings, Pablo Torre-Walter, Lucy Rand, Samantha Reynolds, Mark Siemens, Khadeeja Rashid, Laine Satterlee, Piper Heilbronner, Lily Pound, Ben Whitehurst, Anna Respet, Lizzie Lesoing, Sydney Hertel, Aya Saad-Masri, Brooke Ballenger, Max Proske, Hannah Rosenberg, Ellia Nakahara, Sophia Espinoza, Ivan Woolhouse, Simon Ruland, Gorkem Er, Timothy Sweeny, Melaku Saketa, Michela Schenk, Maren Lynch, Madi Hamm, Grace Schroeder, Michelle Rozenman, Rana Seif, Jackson Hall, Marisela Simental, Daniel Paredes, Aaron Mena, Preston Spaan, Evelyn Stovin, David Andrew Swartz, Anh Tran, Daniel Pittman, Luke Farchione, Emily Boyer, Ukari Verner, Lacey Conrad, Jonathan Velotta, James Weiner, Jagger Gossett, Noah Sherry, Sam Proud, Ben Block, Avi Narayana, Zoey Weiss, Alyssa Wilson, Gabrielle Walsh, David Zonana, Keely Wright, Kena Riveria, Lillybelle Deer, Jena Doom, Elysia Davis, Isabelle Yaremenko, Caitlyn Young

DU Undergraduate Research Journal Archive

Abstracts from the DU Undergraduate Research Showcase.

Leveraging Attention Mechanism To Unlock Gene And Protein Attributes, Ala Jararweh

Computer Science ETDs

Advancing personalized medicine depends on effectively integrating and interpreting the vast, heterogeneous landscape of biological data, from genomic sequences and transcriptomics to the insights embedded in scientific literature. Current machine learning models often focus on single data modalities, limiting their capacity to capture the multifaceted nature of biological systems. We address this gap by developing three attention-based machine-learning models integrating diverse data modalities. Firstly, DeepVul is a multi-task model that leverages cancer transcriptome data to predict genes critical for cancer survival and their corresponding drugs. Subsequently, LitGene refines gene representations by integrating textual information from the scientific literature. Finally, Protein2Text …

Discovery Of Suitable Habitat For Freshwater Mussel Species In The Appomattox River Through The Use Of Environmental Dna., Nicholas Duellman

Longwood Senior Thesis Proposal

Freshwater mussels are a keystone species providing crucial ecosystem services and river composition resiliency. Anecdotal evidence suggests the presence of freshwater mussels within the Appomattox river, the specifics of population sizes and suitable habitat remains an open question. Environmental DNA (eDNA) usage in conservation ecology has exploded in use within the past two decades, being far less invasive and cost-demanding than traditional methods. An eDNA metabarcoding pipeline of the 16s mitochondrial ribosomal subunit was built in R v. 4.4.2, using dada2 v. 3.2.1 package to trim MinION single read ASV outputs for freshwater mussel species identification in the interest of …

Emerging Technologies For Forensic Genetic Identification, Lilly Llanos

Senior Honors Theses

There are many new innovations in forensic science that are being developed for the identification of biological evidence. These techniques include next-generation DNA sequencing, DNA phenotyping, and forensic genetic genealogy. This thesis will explore each, as well as newer applications of proteomics. The methodologies, reliability, practicality of cost and training, moral implications, and past research of each will be discussed. Finally, some ideas for future research and steps to drive growth and greater understanding will be suggested. This will encourage further innovations and the increased acceptance of forensic evidence in court. Each method was found to have both advantages and …

Variation In Thermal Tolerance Plasticity And The Costs Of Heat Exposure In The Estuarine Sea Hare, Phyllaplysia Taylori, Richelle L. Tanner, Rauri C. K. Bowie, Cynthia Y. Wang-Claypool, Jonathan H. Stillman

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Climate change is increasing average temperatures and the frequency and intensity of thermal extremes in coastal marine environments. Organisms in coastal marine habitats are accustomed to environmental fluctuations and possess physiological plasticity that may be advantageous in response to increased occurrence of extremes. To examine whether such plasticity is locally adapted to environmental conditions, we investigated the relationship between genetic diversity and thermal tolerance plasticity in 11 populations of the direct-developing intertidal sea hare, Phyllaplysia taylori, on the western coast of the United States. Using whole-organism metrics of muscle function and metabolic rate and a ddRADseq genomic approach, we …

The Role Of Secondary And Tertiary Structure In The Cap-Independent Translation Of Fgf-9 And Hif-1-Alpha, Amanda Michelle Whittaker

Dissertations, Theses, and Capstone Projects

Under normoxic conditions, eukaryotes initiate translation of RNA through eIF4E recognition of the 5’ cap. However, under cellular stress, eukaryotic translation must be initiated through a 4E-independent, or “cap-independent” mechanism, involving eukaryotic initiation factor 4G (eIF4G) binding directly to the 5’ untranslated regions (5’ UTR) of the RNA. eIF4G binding then recruits the ribosome to the transcript. While this mechanism is useful for translation of apoptotic transcripts and transcripts involved in cell survival, cap-independent translation is also utilized by oncogenic RNA for tumorigenesis. Previous work by our lab and others has categorized this recruitment and initiation mechanism as either internal-ribosome-entry-site …

Microsatellites Reveal The Population Genetic Structure Of Yellow Perch In Minnesota, Megan Boche

Journal of Earth and Life Science

When analyzing a population’s genetic makeup, looking at variation of individuals and populations is a crucial factor. The management of yellow perch will be aided by this information particularly in regard to stocking or relocation. Microsatellite loci were used to analyze the genetic population structure of yellow perch Perca flavescens within and among 29 sampling areas throughout Minnesota’s basins. Seven microsatellite DNA loci were evaluated, with heterozygosities ranging from 0.41 to 0.78. The Lower Mississippi basin samples showed higher numbers of alleles per locus and greater expected heterozygosities compared to other basins, with Lake Pepin (PEP) exhibiting the highest average …

Beyond Homogeneity: Exploring Causal Heterogeneity In Psychopathology, Philip B. Vinh

Theses and Dissertations

Traditional models in psychiatric research often impose assumptions of causal homogeneity, treating population-level associations as reflective of uniform underlying mechanisms. This dissertation challenges that assumption by introducing statistical and machine learning frameworks designed to detect and model causal heterogeneity in the development of psychopathology. Central to this approach is the advancement of finite mixture structural equation modeling (FM-SEM) to identify latent subgroups characterized by distinct, and sometimes opposing, causal pathways.

The dissertation comprises three integrated empirical studies. The first introduces mixDoC, a finite mixture extension of the classical Direction of Causation (DoC) model applied to twin data, enabling the detection …

Copula-Based Bayesian Model For Detecting Differential Gene Expression, Prasansha Liyanaarachchi, N. Rao Chaganty

Mathematics & Statistics Faculty Publications

Deoxyribonucleic acid, more commonly known as DNA, is a fundamental genetic material in all living organisms, containing thousands of genes, but only a subset exhibit differential expression and play a crucial role in diseases. Microarray technology has revolutionized the study of gene expression, with two primary types available for expression analysis: spotted cDNA arrays and oligonucleotide arrays. This research focuses on the statistical analysis of data from spotted cDNA microarrays. Numerous models have been developed to identify differentially expressed genes based on the red and green fluorescence intensities measured using these arrays. We propose a novel approach using a Gaussian …

Impacts Of Multiple Coastal Stressors Across Life-History Stages In The Eastern Oyster, Amaelia Zyck

Open Access Dissertations

Urbanized estuaries are characterized as a complex of biotic and abiotic stressors, which currently challenge marine life and are expected to intensify and become increasingly unpredictable under the ongoing impacts of climate change. The persistence of coastal species that inhabit these stressful environments will ultimately depend on their ability to adapt. Many of these species have complex life cycles, featuring distinct morphological and physiological developmental stages that can exhibit unique responses to environmental pressures. However, since all stages share the same genome, selective pressures acting on one stage can have cascading effects throughout the life cycle. The larval stage, being …

Covariate Selection For Rna-Seq Differential Expression Analysis With Hidden Factor Adjustment, Farzana Noorzahan, Hyeongseon Jeon, Yet Nguyen

Mathematics & Statistics Faculty Publications

In RNA-seq data analysis, a primary objective is the identification of differentially expressed genes, which are genes that exhibit varying expression levels across different conditions of interest. It is widely known that hidden factors, such as batch effects, can substantially influence the differential expression analysis. Furthermore, apart from the primary factor of interest and unforeseen artifacts, an RNA-seq experiment typically contains multiple measured covariates, some of which may significantly affect gene expression levels, while others may not. Existing methods either address the covariate selection or the unknown artifacts separately. In this study, we investigate two integrated strategies, FSR_sva and SVAall_FSR, …

Methods In Statistics, Machine Learning, And Deep Learning For Combining Multi-Omics Dataset, Md Mutasim Billah

Dissertations, Master's Theses and Master's Reports

Transcriptome-wide association studies (TWAS) have emerged as a powerful strategy to bridge genome-wide association studies (GWAS) with gene regulatory mechanisms by integrating genotypic data with gene expression data. While early TWAS methods typically rely on linear models and single-tissue expression references, recent advances underscore the need for flexible, multi-tissue approaches that can capture heterogeneous regulatory architectures and tissue-specific expression patterns. This dissertation introduces a three‑part research project that advances multi‑tissue transcriptome‑wide association studies (TWAS) along complementary axes of methodology, statistical power, and modelling flexibility.

In chapter One, TWAS‑CTL introduces a two‑stage cross‑tissue learner that trains any user‑chosen single‑tissue imputers (STLs) …

Symbiodiniaceae Shifts Over The Last Decade On The Hottest Coral Reefs On Earth, Anna Fiesinger, Rachel Alderdice, Luigi Colin, Hannah Manns, Gabriela Perna, Kathryn H. Stankiewicz, Jacob J. Valenzuela, Line K. Bay, Daniel J. Barshis, Nitin S. Baliga, Iliana B. Baums, John A. Burt, Christian R. Voolstra

Biological Sciences Faculty Publications

Corals in the Persian/Arabian Gulf (PAG) are resilient to various stressors, whose levels exceed those of coral reefs globally. These corals thereby offer insight into mechanisms underlying thermal resilience, e.g., regarding the role of endosymbiotic microalgae in the family Symbiodiniaceae. Previous studies have identified the thermotolerant species Cladocopium thermophilum as broadly associated with corals in the southern PAG. However, algal-host specificity at the within-species level and the temporal stability of these associations are not well understood. Here we sampled two dominant stony corals (Porites harrisoni, n = 119 and Platygyra daedalea, n = 79) at three sites …

Analyzing And Extending Machine Learning Frameworks On High Risk Domains, Chengbin Hu

USF Tampa Graduate Theses and Dissertations

Machine learning (ML) has become a transformative force in high-risk domains such as genomics and cybersecurity, where accurate predictions and robust defenses are essential. This dissertation advances ML frameworks in these areas by developing methods to enhance predictive power in health applications and assess vulnerabilities in machine learning systems.

In the genomics field, the work addresses challenges in Non-Invasive Prenatal Testing (NIPT) of monogenic disorders by proposing a deep learning model that reconstructs the fetal genome using maternal plasma cell-free DNA (cfDNA) and parental whole-genome sequencing (WGS) data. This model achieves high accuracy in single nucleotide variation (SNV) prediction, surpassing …

Genomic Data Science Approaches For Understanding Human Diseases, Snehal Shah

All Dissertations

The intricate interplay of genetic predisposition, environmental influences, and lifestyle acts as the multifactorial landscape of diseases. Understanding this complexity presents a significant challenge. Molecular insights into disease mechanisms, particularly the interactions of DNA, RNA, and proteins with environmental and lifestyle factors, have revolutionized disease diagnosis, prognosis, and treatment. High-throughput technologies, such as next-generation sequencing, generate large amounts of molecular data, holding a wealth of knowledge. These datasets unveil the roles of genes and their interactions with various factors through analysis, shedding light on previously unknown molecular mechanisms underlying disease pathogenesis. Furthermore, they facilitate the discovery of biomarkers crucial for …

Functional And Structural Analysis Of The Neimann-Pick Disease Type C Pathway To Include Caveolin-1, Anthony Michael Seat

Chemistry and Chemical Biology ETDs

Human disease is often thought of as an all or nothing prospect, either one has the disease or one does not. This does not bear out in clinical or personal experiences, instead demonstrating that disease occurs within a spectrum ranging from presumed unaffected to demonstrably and detrimentally affected.Neimann-Pick disease is one example of this spectrum look into diseased states, with multiple named versions of a phenotypically similar disease. We focus on Neimann-Picktype C (NPC), which is the result of a disruption in the efflux of cholesterol and sphingolipids from the endocytic pathway. NPC demonstrates this concept of a spectrum of …

Ocular Gene Transfer In The Spotlight: Implications Of Newspaper Content For Clinical Communications, Shelly Benjaminy, Tania M. Bubela

Office of the Provost

Background: Ocular gene transfer clinical trials are raising hopes for blindness treatments and attracting media attention. News media provide an accessible health information source for patients and the public, but are often criticized for overemphasizing benefits and underplaying risks of novel biomedical interventions. Overly optimistic portrayals of unproven interventions may influence public and patient expectations; the latter may cause patients to downplay risks and over-emphasize benefits, with implications for informed consent for clinical trials. We analyze the news media communications landscape about ocular gene transfer and make recommendations for improving communications between clinicians and potential trial participants in light of …

Hybridization Between The Rare Gray-Headed Chickadee And The Abundant Boreal Chickadee In The Midst Of Shifting Climate, Matthew R. Armstrong

School of Natural Resources: Dissertations, Theses, and Student Research

As species respond to changing climate, distributions and abundances may shift and alter species interactions. Hybridization, a relatively widespread phenomenon becoming more common with climate change, can have beneficial and detrimental effects on population growth rates and genetic integrity. Beneficial effects due to the introduction of advantageous alleles and increased genetic diversity may result from hybridization. Species may also accrue fitness costs associated with changing climates if mismatches occur between environmental variables and phenotypes. The gray-headed chickadee, Poecile cinctus lathami, is an extremely rare songbird that has experienced marked declines in recent decades within its restricted distribution in Alaska …

Heat Stress Changes The Bovine Methylome And Transcriptome And Investigation Of Two Novel Genetic Defects In Cattle, Rachel Renae Reith

Department of Animal Science: Dissertations, Theses, and Student Research

Heat stress is a major concern for livestock producers due to its negative impact on animal health and productivity. Heat stress does so by altering expression of genes through different regulatory mechanisms such as DNA methylation. Understanding how heat stress alters gene expression will help elucidate the genetic basis of physiological changes as well as identify targets for possible heat stress mitigation. The purpose of the first study was to understand how heat stress alters the adipose and skeletal muscle transcriptomes in zilpaterol-fed Brahman, as zilpaterol improves muscle growth and may mitigate the effects of heat stress. Differential expression and …