Computational Biology Commons^™

Computational Tools For Tandem Repeat Detection Using Long-Read Sequencing, Qian Liu, Jincheng Li

Life Sciences Faculty Research

Tandem repeats (TRs) play essential roles in a variety of biological functions, and their abnormal expansions are significantly implicated in phenotypic variation and cause >60 human diseases. However, long TR regions cannot be reliably detected using short-read sequencing, and long-read sequencing enables accurate genome-wide detection of TRs. In recent years, various computational tools have been developed to detect and genotype TRs from long-read data. In this survey, we systematically categorize and review 39 computational tools designed for TR detection, visualization and functional interpretation. We discuss their strengths and limitations for TR detection from long-read sequencing data, highlighting current challenges and …

Characterization And Advancement Of Molluscan Venom Gland Cell Model Systems, James V. Parziale

Dissertations, Theses, and Capstone Projects

Venomous mollusks, including cone snails and coleoid cephalopods, produce rich repertoires of bioactive peptides with profound effects on cellular physiology, yet there are few tractable experimental systems that exist to study their development, maintenance, and venom secretion. Although therapeutics such as the cone snail peptide Ziconotide demonstrate the biomedical potential of molluscan venoms, progress in understanding how venom glands form, function, and evolve has been hindered by the lack of reliable husbandry and the complete absence of in vitro cell models. Modern comparative genomics has revealed widespread convergent evolution across venomous lineages, but molluscan datasets remain underrepresented, limiting insights into …

Computational Comparative Genome Analysis Reveals The Characteristics Of Acinetobacter Baumannii C123 Strains, Jennilyn Nicole G. Mendoza

The Lasallian Journal of Health

Acinetobacter baumannii is a Gram-negative, aerobic and multi-drug resistant bacterial pathogen commonly associated with nosocomial infections. This species has several strains and is known to cause pneumonia, septi cemia, meningitis, urinary tract infection and wound infection which are associated with high mortality rates. This study focused on a genome-wide compari son among target C123 strain and 15 other reference strains to predict the overall properties, and resistance mechanisms of the C123 strain. A total of 16 whole genome sequence strains were retrieved from NCBI database for analysis. The selected strains were assem bled and annotated using computational tools. Further more, …

Metabolic Syndrome Beyond Diagnostic Criteria: Population-Scale Integrative Metabolomics Characterization, Marwa Talal

Theses and Dissertations

Background: Metabolic syndrome (MetS) is a complex cluster of interrelated metabolic abnormalities associated with elevated cardiometabolic risk. While diagnosis is based on well-established five clinical criteria, these may overlook early or atypical metabolic alterations. Large-scale metabolomic profiling offers an opportunity to identify biochemical signatures of MetS beyond diagnostic bias and to evaluate their relative importance across different presentations of the syndrome.

Methods: Data from 117,147 UK Biobank participants were analyzed in a cross-sectional design. High-throughput NMR quantified 75 circulating metabolites, for. Univariate analyses, MetS subtype stratification, and elastic net models with SHAP interpretation were applied to assess feature …

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 …

Privacy-Preserving Federated Learning With Optimized Ensemble Weighting And Knowledge Distillation For Covid-19 Detection From Non-Iid Medical Imaging Data, Richard Annan, Hong Qin, Robert Newman, Madhuri Siddula, Letu Qingge

Computer Science Faculty Publications

Medical imaging enables rapid and accurate diagnosis of COVID-19, with CT scans proving especially effective. However, data privacy concerns limit collaborative model development across hospitals. To address this issue, we introduce a novel federated learning framework. It is referred to as Independent Knowledge Distillation with post-Ensemble Federated Learning (IKDEFL). Differential Privacy (DP) is integrated into the framework to improve privacy guarantees. Three DP mechanisms are evaluated. These include Fixed Gaussian, Gaussian Adaptive, and Tree Adaptive. The evaluation has been conducted on heterogeneous and Non-Independent and Identically Distributed (Non-IID) datasets. These datasets reflect real-world hospital scenarios. Results show that IKDEFL significantly …

A Framework For Characterizing The Peripheral Immune Isonome Using Long-Read Single-Cell Rna Sequencing And Its Relevance To Neurological Disease, Patricia Hayes Doyle

Theses and Dissertations--Neuroscience

Long-read single-cell RNA sequencing provides an opportunity to understand human health and disease at isoform resolution, revealing cellular diversity and disease mechanisms difficult to resolve with bulk or short-read methodologies.

Using a modified PIPseq workflow and computational pipeline adapted for Oxford Nanopore (ONT) sequencing, we profiled isoform usage across immune cells, integrating marker expression and isoform discovery, generating the largest long-read single-cell dataset of human immune cells from a single individual to date. We identified non-canonical protein-coding variants of GZMB and CD3G enriched in unexpected cell types. We also discovered novel transcripts from CMC1 and LYAR with cell-type-specific signatures that …

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, …

Data From: Complete Mitochondrial Genomes Of The Spring Pygmy Sunfish (Elassoma Alabamae), Kayla M. Fast, David Lee Pounders, Mayah P. Peterson, Michael W. Sandel

Research Data

The Spring Pygmy Sunfish, Elassoma alabamae (Mayden, 1993), is a small species of sunfish (Centrarchiformes) endemic to tributaries to the middle Tennessee River in north Alabama. Elassoma alabamae is the most geographically restricted member of Elassoma and the only species found above the fall line. This species was twice considered extinct and was listed under the Endangered Species Act (ESA) as threatened in 2013. To date, surveys for this species have been limited to traditional invasive methods using dipnets and seines. In order to reduce impacts on sensitive populations, we sequenced the mitochondrial genome with the intent of developing a …

Swarm Of One: Self-Organization In Multicellular Robots, Trevor Riley Smith

Graduate Theses, Dissertations, and Problem Reports (ETD)

Designing robots traditionally relies on centralized, top-down methods that constrain adaptability and resiliency, producing systems optimized for specific tasks. However, such systems often fail in complex environments, such as extraterrestrial, disaster, or natural settings, where designers cannot foresee every scenario a robot may encounter. Achieving autonomy in these contexts requires robots that are resilient and capable of adapting to the unknown. Multicellular organisms exhibit this adaptability through self-organization, where complex structures and behaviors emerge from local interactions among their cells. Such organisms can be viewed simultaneously as a single entity and a swarm of cooperating cells, i.e., a Swarm-of-One.

This …

Systematics Of Disk-Winged Bats (Thyroptera), Courtney L. Klumpp

Capstone Showcase

This thesis investigates the evolutionary relationships among disk-winged bats in the genus Thyroptera, a small group of Neotropical bats known for the adhesive suction disks on their wings and feet that allow them to roost inside tightly rolled leaves. The distinctive morphology and behavior of these bats have not been extensively documented, and their phylogenetic relationships remain only partially resolved. The goal of this research is to better understand how these species are related to one another and to determine whether the five recognized species of Thyroptera form a single monophyletic group. To address this question, morphological and genetic …

Searching For Cause Of Unexplained Protein Interaction With Multiple Assembly Methods, Gavin Anderson

Master's Projects

Research into colistin adjuvants has identified interactions between a host of proteins and proteins found within certain strains of bacteria. BLAST, a widely adopted local sequence alignment tool, was used to create a database containing the genomes of relevant bacterial strains, which would then be used to query against the previously identified proteins. Many of these strains do not have publicly available assemblies, which makes database construction difficult. CATwalk, a new naïve fragment extender, is first described in this paper and used to extend fragments of interest. BLAST results first identified short fragments with sufficient similarity, which can then be …

Dosage Sensitivity And The Evolution Of Dosage Compensation: Tests Of The Insensitive Sex Chromosome Hypothesis In Flour Beetles, Shana Pau

Biology Dissertations

Sex chromosome evolution generates imbalances in gene dosage that can disrupt gene expression and organismal function. These imbalances are often resolved through dosage compensation mechanisms, yet the factors that drive the emergence and diversity of these systems remain poorly understood. This dissertation addresses a central question in evolutionary genomics: what governs the evolution of dosage compensation?

Focusing on dosage sensitivity as a potential driver, I evaluate the Insensitive Sex Chromosome Hypothesis (ISCH), which predicts that chromosome-wide compensation is more likely to evolve in genomic contexts that are not depleted of dosage-sensitive genes. Using flour beetles (Tribolium spp.) as a …

Recurrence And Co-Occurrence Of Enhancer-Promoter Interactions Across Human Samples, Satvik Gunjala

Honors Undergraduate Theses

Experimental mapping of enhancer-promoter interactions (EPIs) is resource-intensive, and current computational prediction methods struggle with intrinsic genomic complexity and reliance on limited training data. To address this bottleneck and provide insights for improved computational methods, this study systematically analyzed chromatin contact datasets to investigate the recurrence and co-occurrence of enhancer-promoter interactions across human samples. Putative interactions were evaluated across two HiChIP datasets comprising 218 total samples and one Hi-C dataset comprising 266 samples to assess recurrence across samples and assess sequencing depth related to unique EPIs. Additionally, a preliminary item-based collaborative filtering recommender model was developed to assess co-occurrence patterns …

Interacting With Ideas: How To Engage Stem Students In Active Learning Of Theory Using Technology, Jessica Elizabeth Whitney, Keith Brian Morris

2026 Scholarly Teaching Conference: Concurrent Session Papers

STEM education in the modern age has been subject to much reform – from the integration of technology to an emphasis on student-centered teaching strategies, such as active learning. However, in the wake of virtual and blended-learning environments, student engagement and teacher assessment of student success have been challenged. Tools such as KAHOOT! and iClicker have been promoted to foster an active learning environment while sometimes falling short in regards to student retention of course material. In light of this technological educational revolution, instructors need to be able to determine the most effective tools for their discipline to aid in …

Sex In Plants: Birth, Death, And Trying To Survive In Changing Climates, Elena M. Meyer

Theses and Dissertations

Plant mating systems are key determinants of fitness. Angiosperms exhibit a wide variety of reproductive strategies, including self-fertilization (or selfing), outcrossing, and mixed mating. It has been estimated that up to 43% of plant species are capable of selfing, and selfing has been hypothesized to provide reproductive assurance where opportunities for mating may be limited, such as in marginal environments. However, questions regarding the overall distribution of selfing rates across angiosperms, the maintenance of mixed mating in the face of inbreeding depression, and the impact of self-fertilization on diversification rates remain incompletely resolved. Here, we explore the dynamics of self-fertilization …

Attention-Based Multi-Omics Fusion For Drug Synergy Prediction, Kusal Debnath, Pratip Rana, Preetam Ghosh

Computer Science Faculty Publications

Drug combination therapy in disease management gained popularity in the last few decades. Computational modeling of such combinations is an active area of research in the drug discovery domain. While earlier approaches solely emphasized on the structural features of participating drugs for designing synergistic models, they lack other crucial factors directly linked with drug administration - omics expressions. As differential omics expression is a downstream consequence of the administered drug combinations, utilizing such expressions while designing synergistic models promises robust and dynamic modeling. In this work, we propose SynergyLM that fuses multi-omics features with drug embeddings to build an omics-aware …

Identifying Rna Splicing Changes During Alcohol Withdrawal Using An Optimized Rna-Seq Analysis Pipeline, Yasaswi Veera, Luana Martins De Carvalho, Amy Lasek

UROP Posters

Alcohol use disorder (AUD) causes long-lasting changes in brain gene expression and RNA splicing, particularly in the ventral hippocampus. This study analyzes RNA-Seq data from rats exposed to chronic alcohol and withdrawal to identify transcript-level and splicing alterations. An optimized RNA-Seq pipeline using STAR, FeatureCounts, edgeR, and WGCNA improved efficiency by 25-40% while maintaining consistency across 25 datasets. Results reveal changes in neural signaling and stress-response pathways associated with withdrawal. This work provides both biological insight into AUD and a reproducible computational framework for transcriptomic analysis.

A Tissue Renewal-Based Mechanism Drives Colon Tumorigenesis, Ryan M. Boman, Gilberto Schleiniger, Christopher Raymond, Juan P. Palazzo, Anne Shehab, Bruce M. Boman

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Our Goal is to identify how colorectal cancer (CRC) arises in the single-layered cell epithelium (simple columnar epithelium) that lines the luminal surface of the large intestine. Background: We recently reported that the dynamic organization of cells in colonic epithelium is encoded by five biological rules and conjectured that colon tumorigenesis involves an autocatalytic tissue renewal reaction. Introduction Our objective was to define how altered crypt turnover explains tissue disorganization that leads to adenoma morphogenesis and CRC. Hypothesis: Changes in rate of tissue renewal-based cell polymerization leads to epithelial expansion and tissue disorganization during adenoma histogenesis. Methods: Accordingly, we created …

Generating Predictive Gene Expression Signatures For Alzheimer's Disease Using Postmortem Brain Tissue, Ashley Duche

Pharmaceutical Sciences (PhD) Dissertations

Background: Alzheimer’s Disease (AD) is a progressive neurodegenerative disorder characterized by the accumulation of amyloid-beta (Aβ) plaques and tau protein aggregates. These pathological features develop in specific brain regions, but why some areas are more vulnerable to early AD-related changes remains unclear. To address this, predictive gene expression signatures were developed to explore the molecular mechanisms underlying regional susceptibility to AD pathology.

Methods: This was performed using postmortem brain (PMB) tissue from participants in the Religious Orders Study and Memory and Aging Project (ROSMAP), Mayo Clinic, and Mount Sinai Brain Bank (MSBB) to generate gene expression signatures from six brain …