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Genetics and Genomics

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Articles 301 - 330 of 9414

Full-Text Articles in Life Sciences

Population Genomics Of Pacific Herring Spawning Aggregations In The Eastern Bering Sea, Sydney A. Almgren Dec 2025

Population Genomics Of Pacific Herring Spawning Aggregations In The Eastern Bering Sea, Sydney A. Almgren

Fisheries

Pacific herring (Clupea pallasii) is a critical forage fish to the marine environment, economy, and culture of Alaska. However, despite the importance of Pacific herring in Alaska and throughout the North Pacific, knowledge gaps exist for foundational genomic characteristics of the species, including genetic population structure and the basis of genetic sex determination. In this thesis, I addressed these knowledge gaps using low coverage, whole genome sequencing. I assessed population structure and genetic diversity across seven sampling sites and found three genetic populations: Unalaska, the farthest south sampling location, Kotzebue, the farthest north, and a third group unassociated with geographic …


Generating Predictive Gene Expression Signatures For Alzheimer's Disease Using Postmortem Brain Tissue, Ashley Duche Dec 2025

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 …


Effects Of Urbanization On The Population Genetics And Morphology Of The White-Footed Mouse (Peromyscus Leucopus) Across An Urban–Rural Gradient, Sydney A. Morton Dec 2025

Effects Of Urbanization On The Population Genetics And Morphology Of The White-Footed Mouse (Peromyscus Leucopus) Across An Urban–Rural Gradient, Sydney A. Morton

Master's Theses

Urbanization alters landscapes in ways that can reshape wildlife populations by changing habitat connectivity, resource availability, and selective pressures. To investigate how urbanization influences both genetic differentiation and morphology in small mammals, I examined Peromyscus leucopus (PELE) across an urban–rural gradient in northern Georgia. Using RADseq SNP data from PELE individuals across 13 sites, I quantified pairwise genetic differentiation (FST) and tested how various environmental variables, including impervious surface cover, human population density, and tree canopy cover, predict genetic differentiation after accounting for geographic distance. Genetic differentiation increased with geographic distance and, after controlling for isolation by …


From Morphology To Machine Learning And Genomics: Understanding Phenotypic Variation In Wild Ducks, Sara Gonzalez Dec 2025

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 …


Benchmarking Dna Foundation Models For Genomic And Genetic Tasks, Haonan Feng, Lang Wu, Bingxin Zhao, Chad Huff, Jianjun Zhang, Jia Wu, Lifeng Lin, Peng Wei, Chong Wu Nov 2025

Benchmarking Dna Foundation Models For Genomic And Genetic Tasks, Haonan Feng, Lang Wu, Bingxin Zhao, Chad Huff, Jianjun Zhang, Jia Wu, Lifeng Lin, Peng Wei, Chong Wu

School of Medicine Faculty Publications

The rapid evolution of DNA foundation models promises to revolutionize genomics, yet comprehensive evaluations are lacking. Here, we present a comprehensive, unbiased benchmark of five models (DNABERT-2, Nucleotide Transformer V2, HyenaDNA, Caduceus-Ph, and GROVER) across diverse genomic and genetic tasks including sequence classification, gene expression prediction, variant effect quantification, and topologically associating domain (TAD) region recognition, using zero-shot embeddings. Our analysis reveals that mean token embedding consistently and significantly improves sequence classification performance, outperforming other pooling strategies. Model performance varies among tasks and datasets; while general purpose DNA foundation models showed competitive performance in pathogenic variant identification, they were less …


Immunological Surveillance Against Cancer Across Mammals, Orsolya Vincze, Piotr Minias, Alexandre Corthay, Fernando Colchero, Jean-François Lemaître, Louise Maille, Tamás Malkócs, Justus Hagemann, Dalia A. Conde, Samuel Pavard, Antoine M. Dujon, Beata Ujvari, Frédéric Thomas, Amy M. Boddy, Carlo C. Maley, Damien Chevallier, Tuul Sepp, Thomas Pradeu, Mathieu Giraudeau Nov 2025

Immunological Surveillance Against Cancer Across Mammals, Orsolya Vincze, Piotr Minias, Alexandre Corthay, Fernando Colchero, Jean-François Lemaître, Louise Maille, Tamás Malkócs, Justus Hagemann, Dalia A. Conde, Samuel Pavard, Antoine M. Dujon, Beata Ujvari, Frédéric Thomas, Amy M. Boddy, Carlo C. Maley, Damien Chevallier, Tuul Sepp, Thomas Pradeu, Mathieu Giraudeau

Presidential Fellows Articles and Research

Contrary to expectations based on their higher cell numbers, larger and longer-lived species do not face dramatically increased risk of cancer. This strongly suggests that evolution has fashioned natural cancer resistance mechanisms, yet our knowledge remains limited on what these mechanisms might be. The cancer immunological surveillance hypothesis, proposed by Burnet and Thomas in the 1950s, highlights immunity as a key factor determining species-specific cancer resistance. Here we address the original, evolutionary interpretation of this hypothesis by investigating the relationship between cancer mortality risk and markers of efficient antigen presentation. Our results show that the expansion of the MHC class …


Population Structure Analysis Of Four Basal Higher-Attines Using Bioinformatic Approaches, Gabriel Mcdanield Nov 2025

Population Structure Analysis Of Four Basal Higher-Attines Using Bioinformatic Approaches, Gabriel Mcdanield

Biology Theses

Metapopulations within the family Formicidae are unique among other animals due to the large colonies they build, and the mating strategies required to fertilize a specialized reproductive caste that will often produce young for the life of the colony. One group of ants, the fungus-gardeners (tribe Attini). The population structure of North American non-leafcutting, fungus-gardening ants has been understudied, especially in the southwest of the United States. Additionally, not much is known about their dispersal biology, so the dynamics of dispersal of these species and how they affect population structure is likewise not well known. To shed light on the …


Chronosort: Revealing Hidden Dynamics In Alphafold3 Structure Predictions, Matthew J. Argyle, William P. Heaps, Corbyn Kubalek, Spencer Gardiner, Bradley C. Bundy, Dennis Della Corte Nov 2025

Chronosort: Revealing Hidden Dynamics In Alphafold3 Structure Predictions, Matthew J. Argyle, William P. Heaps, Corbyn Kubalek, Spencer Gardiner, Bradley C. Bundy, Dennis Della Corte

Faculty Publications

Protein function emerges from dynamic conformational changes, yet structure prediction methods provide only static snapshots. While AlphaFold3 (AF3) predicts protein structures, the potential for extracting dynamic information from its ensemble predictions has remained underexplored. Here, we demonstrate that AF3 structural ensembles contain substantial dynamic information that correlates remarkably well with molecular dynamics simulations (MD). We developed ChronoSort, a novel algorithm that organizes static structure predictions into temporally coherent trajectories by minimizing structural differences between neighboring frames. Through systematic analysis of four diverse protein targets, we show that root-mean-square fluctuations derived from AF3 ensembles can correlate strongly with those from MD …


Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu Nov 2025

Epigenetic Landscape In Lysosomal Storage Disorders: Mechanisms And Modulation, Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Lysosomal storage disorders (LSDs) are rare substrate-accumulating diseases primarily characterized by mutations in genes encoding proteins involved in lysosomal function, most of which have enzymatic activity. Resulting lysosomal dysfunction leads to the overaccumulation of non- or partially degraded substrates. While it is true that enzyme deficiency is the primary cause of LSDs, the epigenetic alterations in DNA methylation, miRNA expression, and histone modifications appear to be critical mechanisms involved in the pathogenesis of LSDs. As epigenetic marks are, in most cases, reversible, their study becomes vital to developing strategies aimed at reversing epigenome alterations. Although classical therapeutic alternatives aim to …


Tackling The Burden Of Envenomation In Africa: Advances, Challenges, And Strategic Priorities For Enhanced Diagnosis And Treatment, Khawla Ammouch, Nihal Mesmoudi, Noureddine Hammani, Jacob Galan, Abdellah Moustaghfir, Reto Stöcklin, Naoual Oukkache Nov 2025

Tackling The Burden Of Envenomation In Africa: Advances, Challenges, And Strategic Priorities For Enhanced Diagnosis And Treatment, Khawla Ammouch, Nihal Mesmoudi, Noureddine Hammani, Jacob Galan, Abdellah Moustaghfir, Reto Stöcklin, Naoual Oukkache

Human Genetics Publications

Venomous animal envenomation remains a significant but neglected public health problem worldwide, with an estimated 5.4 million cases and up to 138,000 deaths annually. The burden is particularly acute in tropical and subtropical regions, especially sub-Saharan Africa, where rural and vulnerable populations face limited access to effective antivenoms and healthcare. Despite this, comprehensive data on envenomation incidence, clinical management, and outcomes remain scarce, hampering efforts to develop effective prevention and treatment strategies. This review synthesizes current knowledge on venomous animal diversity, epidemiology, and clinical manifestations globally, with a focus on Africa’s unique challenges. We examine critical gaps in antivenom production, …


Fostering Entrepreneurial Thinking And Practice Through Teaching And Learning Integration, Mohammad G. Sabbir Nov 2025

Fostering Entrepreneurial Thinking And Practice Through Teaching And Learning Integration, Mohammad G. Sabbir

Learning and Educational Center Virtual Teaching and Learning Conference

This session explores an innovative, evidence-based approach to integrating entrepreneurial thinking into undergraduate neuroscience education through hands-on gene editing experiences. Using the commercially available Bio-Rad CRISPR/Cas9-based “Out of the Blue” kit for bacterial LacZ gene editing, students are guided not only through the scientific principles underlying modern gene editing technologies but also through the entrepreneurial challenge of replicating and manufacturing the kit using existing lab resources. This model empowers students to extend their learning beyond the classroom by engaging in cost-effective, scalable biotechnology practices—particularly valuable for institutions with limited funding. Classroom-based research demonstrates increased student engagement, deeper conceptual understanding, and …


Leveraging Dna Methylation Profiling And Microrna Sequencing To Characterize The Epigenomic Landscape Of Major Depressive Disorder Disease Trajectory, Jan Dahrendorff Nov 2025

Leveraging Dna Methylation Profiling And Microrna Sequencing To Characterize The Epigenomic Landscape Of Major Depressive Disorder Disease Trajectory, Jan Dahrendorff

USF Tampa Graduate Theses and Dissertations

Major depressive disorder (MDD) is a common and debilitating mental disorder associated with a significant disease burden and economic cost. Despite ample evidence documenting the efficacy of a diverse array of established MDD therapies, a large proportion of patients are inadequately responsive to initial treatment attempts, with first-line treatments leading to remission in only ~30% of the patients. Importantly, about a third of patients even fail to achieve symptom improvement after two or more antidepressant trials, resulting in what is commonly defined as treatment-resistant depression (TRD). The ability to identify which treatments are most likely to elicit a positive response …


Characterization Of Androctonus Mauritanicus Venom And In Vitro Screening Of Sars-Cov-2 Entry Inhibitors Candidates, Reda Chahir, Jacob Galan, Hicham Hboub, Ahmed Salim Lahlou, Salma Chakir, Hinde Aassila, Reda Ben Mrid, Najat Bouchmaa, Reto Stöcklin, Rachid El Fatimy, Naoual Oukkache Nov 2025

Characterization Of Androctonus Mauritanicus Venom And In Vitro Screening Of Sars-Cov-2 Entry Inhibitors Candidates, Reda Chahir, Jacob Galan, Hicham Hboub, Ahmed Salim Lahlou, Salma Chakir, Hinde Aassila, Reda Ben Mrid, Najat Bouchmaa, Reto Stöcklin, Rachid El Fatimy, Naoual Oukkache

Human Genetics Publications

Animal venom, known for its complex biochemical composition, presents a valuable source of therapeutic molecules, particularly for antiviral applications. Despite this potential, the industrial use of venom remains limited, with fewer than a dozen venom-derived compounds reaching commercial markets. This study underscores the significance of exploring venom’s natural diversity as a reservoir for novel bioactive compounds that could drive innovative drug development. We investigated the venom of the Moroccan black scorpion Androctonus mauritanicus (Am), applying solid-phase extraction (SPE) and high-performance reversed-phase liquid chromatography (RP-HPLC) to fractionate the venom into 80 distinct samples. These fractions were subjected to detailed analysis …


Losing Focus In The Age Of Tik Tok: Clinical Evidence For Policy Action On Social Media Use, Megan Conefrey, Robert Griffin Nov 2025

Losing Focus In The Age Of Tik Tok: Clinical Evidence For Policy Action On Social Media Use, Megan Conefrey, Robert Griffin

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Tracking Livestock Heart Rate & Location Using Long-Range Radio Networks. An Immediate Solution For Farms Without Reliable Wi-Fi, Dermott Harkin, Martin Bradley Nov 2025

Tracking Livestock Heart Rate & Location Using Long-Range Radio Networks. An Immediate Solution For Farms Without Reliable Wi-Fi, Dermott Harkin, Martin Bradley

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Voices Matter: Tackling Accentism In Ireland. A Study Addressing Accent-Based Discrimination Awareness In Education, Sadhbh Reddington, Victoria Graham, Holly Jordan, Mairead Moriarty Nov 2025

Voices Matter: Tackling Accentism In Ireland. A Study Addressing Accent-Based Discrimination Awareness In Education, Sadhbh Reddington, Victoria Graham, Holly Jordan, Mairead Moriarty

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Supporting Single Parents: How Loneliness And Self-Stigma Can Impact Single Parents And Their Quality Of Life, Alana Powell, David Mothersill Nov 2025

Supporting Single Parents: How Loneliness And Self-Stigma Can Impact Single Parents And Their Quality Of Life, Alana Powell, David Mothersill

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Income Inequality And Attitudes Towards Immigrants – How Increased Inequality Drives Division, Niamh Anderson, Vincent O'Sullivan Nov 2025

Income Inequality And Attitudes Towards Immigrants – How Increased Inequality Drives Division, Niamh Anderson, Vincent O'Sullivan

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Ireland Blossoms Through Multiculturalism - Designing For Community Connection, Julia Kuczera, Shirley Casey, Hilary Kenna Nov 2025

Ireland Blossoms Through Multiculturalism - Designing For Community Connection, Julia Kuczera, Shirley Casey, Hilary Kenna

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Unheard And Underserved: Exploring Support For Male Victims Of Partner Abuse, Michael Keenan, Colletta Dalikeni Nov 2025

Unheard And Underserved: Exploring Support For Male Victims Of Partner Abuse, Michael Keenan, Colletta Dalikeni

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Assessing Demand And Simulating Feasibility For Commuter Rail In Lagging Regional Areas. Case Study: Sligo, Holly Briere-Edney, Brian Mccann Nov 2025

Assessing Demand And Simulating Feasibility For Commuter Rail In Lagging Regional Areas. Case Study: Sligo, Holly Briere-Edney, Brian Mccann

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Ireland's Infrastructure: From Delays To Deliveries!, Conor Barnett, Keren Goodman Nov 2025

Ireland's Infrastructure: From Delays To Deliveries!, Conor Barnett, Keren Goodman

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


A Fast-Track Way To Identify Derelict And Vacant Homes For Refurbishment, Dylan O'Donnell, Enda Dunican Nov 2025

A Fast-Track Way To Identify Derelict And Vacant Homes For Refurbishment, Dylan O'Donnell, Enda Dunican

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Making Buildings Smarter And More Sustainable With Ai, Anthony Lowe, Martin Klepal Nov 2025

Making Buildings Smarter And More Sustainable With Ai, Anthony Lowe, Martin Klepal

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Solving The Bed Crisis - Predicting 30-Day Hospital Readmissions In Elderly Patients Using Ai, Mark Mckeon, Thoa Pham Nov 2025

Solving The Bed Crisis - Predicting 30-Day Hospital Readmissions In Elderly Patients Using Ai, Mark Mckeon, Thoa Pham

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


The Impact Of Chronic Pain On Income And Employment, Jordan Vaarsi, Amber Jolly, Karim S. Ladha Nov 2025

The Impact Of Chronic Pain On Income And Employment, Jordan Vaarsi, Amber Jolly, Karim S. Ladha

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Living The Life: A Community Approach To Men’S Health And Longevity, Paul Anders, Aisling Mcgrath Nov 2025

Living The Life: A Community Approach To Men’S Health And Longevity, Paul Anders, Aisling Mcgrath

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


When Care Can’T Move Forward – The Human And Social Cost Of Freezing Of Gait In Parkinson’S Disease, Padraig Cronin, Lucy M. Collins, Aideen M. Sullivan Nov 2025

When Care Can’T Move Forward – The Human And Social Cost Of Freezing Of Gait In Parkinson’S Disease, Padraig Cronin, Lucy M. Collins, Aideen M. Sullivan

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Life Under Pressure: How Doubling The Genome Affects The Memory Of Environmental Stress In Worms, Aisling Phelan, Emma Bazzani, Clément Verdier, Laetitia Chauve, Aoife Mclysaght Nov 2025

Life Under Pressure: How Doubling The Genome Affects The Memory Of Environmental Stress In Worms, Aisling Phelan, Emma Bazzani, Clément Verdier, Laetitia Chauve, Aoife Mclysaght

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.


Sticky Genes: Can Repeated Dna Sequences Trigger Motor Neurone Disease?, Guste Venslovaite, Russell Mclaughlin Nov 2025

Sticky Genes: Can Repeated Dna Sequences Trigger Motor Neurone Disease?, Guste Venslovaite, Russell Mclaughlin

SURE Journal: Science Undergraduate Research Experience Journal

No abstract provided.