Open Access. Powered by Scholars. Published by Universities.®

Genetics and Genomics Commons™

Open Access. Powered by Scholars. Published by Universities.®

9,411 Full-Text Articles 33,386 Authors 3,686,722 Downloads 285 Institutions

All Articles in Genetics and Genomics

Faceted Search

9,411 full-text articles. Page 36 of 384.

Analysis Of Differential Gene Expression In Androgen-Independent Clones Derived From The Mycap Pca Cell Line, Jessie L. Tignor, Melanie Sinanian, Richard Inho Joh, David Gewirtz, Jason Reed 2025 Virginia Commonwealth University

Analysis Of Differential Gene Expression In Androgen-Independent Clones Derived From The Mycap Pca Cell Line, Jessie L. Tignor, Melanie Sinanian, Richard Inho Joh, David Gewirtz, Jason Reed

UROP Posters

Androgen deprivation therapy (ADT) is a primary treatment strategy for prostate cancer (PCa), yet many tumors eventually develop androgen independence, leading to treatment resistance. To investigate the molecular changes underlying this transition, we analyzed differential gene expression in four androgen-independent (AI) clones derived from the Myc-CaP prostate cancer cell line using RNA sequencing. Gene expression profiles were compared to the parental Myc-CaP line, and differentially expressed genes (DEGs) were identified using DESeq2 and edgeR. The AI clones exhibited significant downregulation of senescence-associated genes, including Ezh2 and lamin B1, suggesting a loss of senescence-related chromatin repression. Additionally, upregulation of Wnt pathway …


Electrochemical Strategies For Microrna Quantification Leveraging Amplification And Nanomaterials: A Review, Alexander Hunt, Gymama Slaughter 2025 Old Dominion University

Electrochemical Strategies For Microrna Quantification Leveraging Amplification And Nanomaterials: A Review, Alexander Hunt, Gymama Slaughter

Center for Bioelectronics Publications

MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression and have emerged as critical biomarkers in various diseases, including cancer. Their stability in bodily fluids and role as oncogenes or tumor suppressors make them attractive targets for non-invasive diagnostics. However, conventional detection methods, such as Northern blotting, RT-PCR, and microarrays, are limited by low sensitivity, lengthy protocols, and limited specificity. Electrochemical biosensors offer a promising alternative, providing high sensitivity, rapid response times, portability, and cost-effectiveness. These biosensors translate miRNA hybridization events into quantifiable electrochemical signals, often leveraging redox-active labels, mediators, or intercalators. Recent advancements in nanomaterials and signal amplification …


Weighted Family History Density Of Substance Use: Influence On Participant Substance Use Onset, Escalation, And Duration, Carleigh A. Litteral 2025 University of Kentucky

Weighted Family History Density Of Substance Use: Influence On Participant Substance Use Onset, Escalation, And Duration, Carleigh A. Litteral

Theses and Dissertations--Psychology

Substance use disorders impose a staggering toll on the United States (U.S.), straining healthcare systems, destabilizing communities, and profoundly impacting both individuals and families. Approximately one in six Americans aged 12 and older had a past-year substance use disorder in 2022 (Key Substance Use, 2022), and nearly one-third of adults experience a substance use disorder in their lifetime (Wu, 2010), contributing to an economic burden exceeding $400 billion annually (National Drug Threat Assessment, 2011). Family history of substance use disorders is a key predictor of vulnerability, with individuals who have affected relatives being 2–8 times more …


The Effects Of Plx 3397 On Fentanyl Escalation In Male And Female Sprague-Dawley Rats, Jakob Shaykin 2025 University of Kentucky

The Effects Of Plx 3397 On Fentanyl Escalation In Male And Female Sprague-Dawley Rats, Jakob Shaykin

Theses and Dissertations--Psychology

Purpose: A hallmark characteristic of opioid use disorder (OUD) is a persons’ ‘loss of control’, which leads to the compulsion to seek and obtain opioids, resulting in increased consumption. This phenomenon is known as ‘escalation of drug intake’. Chronic opioid use causes microglial reactivity and subsequent release of proinflammatory cytokines leading to neuroinflammation, weakening one’s executive control over drug taking and ultimately leading to greater use. Previous research in our laboratory has explored heterogeneity of fentanyl intake in extended access (6-hr) sessions and identified distinct endophenotypes of fentanyl intake. Moreover, we have observed a positive correlation between Treml1 expression …


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 2025 University of Konstanz

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 …


Assessment Of The Genetic Population Structure And Extent Of Clonality In A Rare Serpentine Endemic, Lathyrus Biflorus T.W. Nelson & J.P. Nelson (Fabaceae), Using Ddrad Sequencing, Ashley Dickinson 2025 Cal Poly Humboldt

Assessment Of The Genetic Population Structure And Extent Of Clonality In A Rare Serpentine Endemic, Lathyrus Biflorus T.W. Nelson & J.P. Nelson (Fabaceae), Using Ddrad Sequencing, Ashley Dickinson

Cal Poly Humboldt theses and projects

Lathyrus biflorus, or the two-flowered pea, is a rare herbaceous perennial restricted to a single population in Northern California. The species is considered critically imperiled but remains unprotected under state or federal endangered species acts. Despite its rarity, little is known about its life history, reproductive biology, or genetic diversity. Using genome-wide reduced representation sequencing, this study aimed to address these gaps by investigating the molecular evidence of clonality, the number and diversity of genets (unique genetic individuals which can be made up of one or many clonal units or ramets), and overall genetic health of the population. My …


Patterns Of Kinship And Sociality In North American River Otters, Whitney E. Vickers 2025 California State Polytechnic University Humboldt

Patterns Of Kinship And Sociality In North American River Otters, Whitney E. Vickers

Cal Poly Humboldt theses and projects

Previous studies of river otters (Lontra canadensis) in coastal Humboldt County, California have documented varying social group compositions over the last four decades. It has been assumed that otters travel between coastal wetland sites, but the extent of movement has been unknown. Socially, river otters have been observed alone, in small family groups that consisted of an otter mom and pup(s), in larger helper groups that consisted of an otter mom, pup(s), and at least one additional adult or juvenile (helpers), and in all-adult social groups. Until now it was unknown whether the composition of social groups was …


Dna And Protein Determinants For P63 Transcriptional Activity, Abigail McCann 2025 University at Albany, State University of New York

Dna And Protein Determinants For P63 Transcriptional Activity, Abigail Mccann

Electronic Theses & Dissertations (2024 - present)

The transcription factor p63 is critical for development of the epidermis and other epithelial-related structures. Mutations in the DNA-binding domain of p63 lead to a range of human developmental disorders characterized by symptoms such as ectrodactyly, painful skin dysplasia, and cleft lip and palate. The TP63 gene is also amplified in squamous cell carcinomas, contributing to tumor pathogenesis. While the importance of p63 in human health is well established, the mechanisms underlying its control of an essential gene network remain unclear. TP63 encodes multiple isoforms with distinct N- and C-terminal domains. The ∆Np63α isoform is directly linked to epidermal development …


Neuroinflammatory Signaling And Immune Cell Infiltration Differ In Brains Of Rats Exposed To Space Radiation And Social Isolation, Austin M. Adkins, Zachary N. M. Luyo, Alea F. Boden, Riley S. Heerbrandt, Richard A. Britten, Laurie L. Wellman, Larry D. Sanford 2025 Macon & Joan Brock Virginia Health Sciences at Old Dominion University

Neuroinflammatory Signaling And Immune Cell Infiltration Differ In Brains Of Rats Exposed To Space Radiation And Social Isolation, Austin M. Adkins, Zachary N. M. Luyo, Alea F. Boden, Riley S. Heerbrandt, Richard A. Britten, Laurie L. Wellman, Larry D. Sanford

Center for Integrative Neuroscience and Inflammatory Diseases (CINID) Faculty Publications

Astronauts on the proposed Mars missions will be exposed to extended periods of social isolation (SI) and space radiation (SR). SI and SR-induced immune dysregulation can result in persistent neuroinflammation and neuronal damage which could negatively impact an astronaut’s health and ability to maintain adequate levels of performance. The synergistic effects of combined SI and SR on immune system functionality and the brain remain unknown. Determining how single and combined inflight stressors modulate the immune system is crucial for fully understanding pathways impacting astronaut health and performance. We used ground-based analogs of SI and SR in rodent models to investigate …


Late Diagnosis Of Klinefelter Syndrome: Overcoming Phenotypic Variability And Diagnostic Oversights, Amna Kamran, Chinelo Okigbo 2025 Macon & Joan Brock Virginia Health Sciences at Old Dominion University

Late Diagnosis Of Klinefelter Syndrome: Overcoming Phenotypic Variability And Diagnostic Oversights, Amna Kamran, Chinelo Okigbo

Department of Medicine Faculty Publications

We report a case of Klinefelter syndrome (KS) diagnosed in adulthood, emphasizing the impact of phenotypic variability and the declining reliance on physical examination in delayed recognition. A 27-year-old male with obesity, low libido, and biochemical and clinical primary hypogonadism was found to have 47, XXY karyotype, consistent with KS. His hypogonadism was initially attributed to obesity and overlooked, despite classic signs of a micropenis and small testes. The case highlights the importance of physical examination, comprehensive history, and clinician awareness in diagnosing KS, particularly in atypical presentations. KS is associated with increased risks of osteoporosis, cardiovascular disease, and psychosocial …


Polygenic Risk Scores Of Grip Strength In Men And Women With Or At Risk For Hiv, Sreevidya Sadananda Sadasiva Rao 2025 University at Albany, State University of New York

Polygenic Risk Scores Of Grip Strength In Men And Women With Or At Risk For Hiv, Sreevidya Sadananda Sadasiva Rao

Electronic Theses & Dissertations (2024 - present)

Background: Adequate hand function among older adults is necessary for the successful completion of activities of daily living and can affect whether an older adult is able to live independently. Current research highlights grip strength, the strength people have in their hands, as a robust predictor of morbidity and mortality, and explores the decline in grip strength over time. A person’s family history and genes (DNA) affect how much grip strength they have. Previous studies have identified genes that affect grip strength, mainly in European ancestry populations. In this study, we examined whether these genetic elements predict grip strength in …


Copula-Based Bayesian Model For Detecting Differential Gene Expression, Prasansha Liyanaarachchi, N. Rao Chaganty 2025 University of Sri Jayewardenepura

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 …


Heterogeneous Clustering Of Multiomics Data For Breast Cancer Subgroup Classification And Detection, Joseph Pateras, Musaddiq Lodi, Pratip Rana, Preetam Ghosh 2025 Virginia Commonwealth University

Heterogeneous Clustering Of Multiomics Data For Breast Cancer Subgroup Classification And Detection, Joseph Pateras, Musaddiq Lodi, Pratip Rana, Preetam Ghosh

Computer Science Faculty Publications

The rapid growth of diverse -omics datasets has made multiomics data integration crucial in cancer research. This study adapts the expectation–maximization routine for the joint latent variable modeling of multiomics patient profiles. By combining this approach with traditional biological feature selection methods, this study optimizes latent distribution, enabling efficient patient clustering from well-studied cancer types with reduced computational expense. The proposed optimization subroutines enhance survival analysis and improve runtime performance. This article presents a framework for distinguishing cancer subtypes and identifying potential biomarkers for breast cancer. Key insights into individual subtype expression and function were obtained through differentially expressed gene …


A Data-Driven Sliding-Window Pairwise Comparative Approach For The Estimation Of Transmission Fitness Of Sars-Cov-2 Variants And The Construction Of The Evolution Fitness Landscape, Md Jubair Pantho, Richard Annan, Landen Alexander Bauder, Sophia Huang, Letu Qingge, Hong Qin 2025 University of Tennessee at Chattanooga

A Data-Driven Sliding-Window Pairwise Comparative Approach For The Estimation Of Transmission Fitness Of Sars-Cov-2 Variants And The Construction Of The Evolution Fitness Landscape, Md Jubair Pantho, Richard Annan, Landen Alexander Bauder, Sophia Huang, Letu Qingge, Hong Qin

Computer Science Faculty Publications

Estimating the transmission fitness of SARS-CoV-2 variants and understanding their evolutionary fitness trends are important for epidemiological forecasting. Existing methods are often constrained by their parametric natures and do not satisfactorily align with the observations during COVID-19. Here, we introduce a sliding-window data-driven pairwise comparison method, the differential population growth rate (DPGR) that uses viral strains as internal controls to mitigate sampling biases. DPGR is applicable in time windows in which the logarithmic ratio of two variant subpopulations is approximately linear. We apply DPGR to genomic surveillance data and focus on variants of concern (VOCs) in multiple countries and regions. …


Cath-Ddg: Towards Robust Mutation Effect Prediction On Protein-Protein Interactions Out Of Cath Homologous Superfamily, Guanglei Yu, Xuehua Bi, Teng Ma, Yaohang Li, Jianxin Wang 2025 Central South University

Cath-Ddg: Towards Robust Mutation Effect Prediction On Protein-Protein Interactions Out Of Cath Homologous Superfamily, Guanglei Yu, Xuehua Bi, Teng Ma, Yaohang Li, Jianxin Wang

Computer Science Faculty Publications

Motivation: Protein-protein interactions (PPIs) are fundamental aspects in understanding biological processes. Accurately predicting the effects of mutations on PPIs remains a critical requirement for drug design and disease mechanistic studies. Recently, deep learning models using protein 3D structures have become predominant for predicting mutation effects. However, significant challenges remain in practical applications, in part due to the considerable disparity in generalization capabilities between easy and hard mutations. Specifically, a hard mutation is defined as one with its maximum TM-score < 0.6 when compared to the training set. Additionally, compared to physics-based approaches, deep learning models may overestimate performance due to potential data leakage.

Results: We propose new training/test splits that mitigate data leakage according to the CATH homologous superfamily. Under the constraints of physical …


Foundation Models In Bioinformatics, Fei Guo, Renchu Guan, Yaohang Li, Qi Liu, Xiaowo Wang, Can Yang, Jianxin Wang 2025 Central South University

Foundation Models In Bioinformatics, Fei Guo, Renchu Guan, Yaohang Li, Qi Liu, Xiaowo Wang, Can Yang, Jianxin Wang

Computer Science Faculty Publications

With the adoption of foundation models (FMs), artificial intelligence (AI) has become increasingly significant in bioinformatics and has successfully addressed many historical challenges, such as pre-training frameworks, model evaluation and interpretability. FMs demonstrate notable proficiency in managing large-scale, unlabeled datasets, because experimental procedures are costly and labor intensive. In various downstream tasks, FMs have consistently achieved noteworthy results, demonstrating high levels of accuracy in representing biological entities. A new era in computational biology has been ushered in by the application of FMs, focusing on both general and specific biological issues. In this review, we introduce recent advancements in bioinformatics FMs …


Benchmarking Batch-Effect Correction Methods Towards The Construction Of A Triple-Negative Breast Cancer Cell Atlas, Peter Scheible, Amy H. Tang, Jing He, Jiangwen Sun 2025 Old Dominion University

Benchmarking Batch-Effect Correction Methods Towards The Construction Of A Triple-Negative Breast Cancer Cell Atlas, Peter Scheible, Amy H. Tang, Jing He, Jiangwen Sun

Computer Science Faculty Publications

Triple-negative breast cancer (TNBC) requires detailed cellular mapping given its aggressive nature, immense tumor heterogeneity and genetic diversity. We integrated 156,794 cells from six scRNA-seq datasets—including tumors, metastases, and cell lines—to build a TNBC scRNA cell atlas, focusing on batch effect mitigation while maintaining biological and molecular details. Preprocessing f ilters noise, normalizes data, and leverages PCA for integration readiness. We utilized scANVI, a semi-supervised tool, to align datasets, preserving TNBC’s complex tumor heterogeneity via marker annotations [1]. UMAPs demonstrate biological clustering in integrated data, contrasted with datasetdriven unintegrated patterns. Assessments verifying effective batch correction. This method aligns with NASA’s …


A Survey On Deep Learning For Drug-Target Binding Prediction: Models, Benchmarks, Evaluation, And Case Studies, Kusal Debnath, Pratip Rana, Preetam Ghosh 2025 Virginia Commonwealth University

A Survey On Deep Learning For Drug-Target Binding Prediction: Models, Benchmarks, Evaluation, And Case Studies, Kusal Debnath, Pratip Rana, Preetam Ghosh

Computer Science Faculty Publications

Conventional drug discovery is expensive, time-consuming, and prone to failure. Artificial intelligence has become a potent substitute over the last decade, providing strong answers to challenging biological issues in this field. Among these difficulties, drug-target binding (DTB) is a key component of drug discovery techniques. In this context, drug-target affinity and drug–target interaction are complementary and essential frameworks that work together to improve our comprehension of DTB dynamics. In this work, we thoroughly analyze the most recent deep learning models, popular benchmark datasets, and assessment metrics for DTB prediction. We look at the paradigm shift in the development of drug …


Deepssetracer 2.0: Improved Deep Learning Model Performance For Protein Secondary Structure Segmentation From Cryo-Em Maps, Bryan Hawickhorst, Thu Nguyen, Willy Wriggers, Jiangwen Sun, Jing He 2025 Old Dominion University

Deepssetracer 2.0: Improved Deep Learning Model Performance For Protein Secondary Structure Segmentation From Cryo-Em Maps, Bryan Hawickhorst, Thu Nguyen, Willy Wriggers, Jiangwen Sun, Jing He

Computer Science Faculty Publications

DeepSSETracer is a method for segmenting protein secondary structure from medium-resolution (5-10Å) cryogenic electron microscopy (cryo-EM) density maps. We conducted experiments and ablation studies to examine the effects of normalization methods, max-pooling, activation functions, and loss calculation region on DeepSSETracer. By combining multiple technical improvements, the performance of the new version, DeepSSETracer 2.0, was significantly enhanced compared to DeepSSETracer 1.1. On a set of 77 test cases, the weighted average per-voxel F1 score increased from 62.1% to 70.3% for helix detection, and from 47.8% to 62.5% for β-sheet detection. While each of the five modifications in the network enhanced the …


Dna Methylation Variation In Eastern Diamondback Rattlesnakes (Crotalus Adamanteus) On A Georgia Barrier Island, Megan Hoog 2025 Georgia Southern University

Dna Methylation Variation In Eastern Diamondback Rattlesnakes (Crotalus Adamanteus) On A Georgia Barrier Island, Megan Hoog

College of Graduate Studies: Theses & Dissertations

The Eastern Diamondback Rattlesnake (Crotalus adamanteus, EDB) is the largest rattlesnake in the world and is thought to be declining in many portions of its range. Genetic venom studies in the Southeast United States have shown evidence of fine-scale differences within two main geographic groups on Jekyll Island. My objective is to expand on this finding to determine if epigenetic mechanisms, specifically DNA methylation, varies among different populations of EDB in similar environments, age classes, and sexes. I collected EDB blood samples through a partnership with the Jekyll Island Authority and screened 44 individuals for epigenetic variation from …


Digital Commons powered by bepress