Genetics and Genomics Commons^™

Large Scale Kmer-Based Proteomic Analysis: An Application Towards Evolutionary Constraint Discovery, Matthew Chak

Master's Theses

Large protein databases now make it possible to study short peptides across natural protein sequence space at unprecedented scale, but exhaustively counting k-mers across billions of protein sequences remains computationally difficult. This thesis develops an exact amino-acid k-mer counting method based on direct addressing, in which fixed-length amino-acid strings are encoded as base-20 integers and updated with a sliding-window recurrence. By avoiding key storage and collision resolution, this approach removes overhead inherent to hash-map-based methods when the k-mer space is sufficiently dense. A memory analysis shows when direct addressing is preferable to open-addressing hash tables, and expected-saturation calculations motivate its …

Adapting Population Genetics, Practice, And Policy For Plant Conservation In A Changing World, Cooper M. Kimball-Rhines

Graduate Doctoral Dissertations

Biodiversity conservation is an inherently interdisciplinary goal that requires effective collaboration among academics, ecosystem managers, policymakers, and other stakeholders. Codesigning research with these groups ensures experiments are useful and improves adoption of policy and practice recommendations while advancing our understanding of basic science. This dissertation explores the power of codesigned research in shaping plant conservation strategies using stakeholder engagement, causal inference, demographic modeling, and multi-omic sequencing techniques. In chapter 1 I discuss the history of New England ecosystems and the need for research-driven changes to plant conservation policy and practice in the face of global change. In chapter 2, I …

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.

Popgenhelpr: An R Package To Streamline And Facilitate Informed Population Genomic Analyses And Visualization Of Genetic Ancestry, Diversity And Differentiation, Keaka Farleigh, Mason O. Murphy, Christopher Marie Blair, Tereza Jezkova

Publications and Research

Analysing large population genomic datasets requires an interdisciplinary skillset. Beyond a knowledge base in genetics and population biology, population genomic analyses involve computer science and statistics, representing a barrier for researchers without experience in those fields. PopGenHelpR seeks to lower this barrier by enabling researchers to perform population genomic analyses and generate near-publication quality figures in a streamlined and informed fashion. PopGenHelpR allows users to estimate genetic diversity within populations as well as differentiation among populations and individuals from single nucleotide polymorphism data. PopGenHelpR includes commonly used measures such as observed heterozygosity and FST. PopGenHelpR also provides five …

A Disorder-Aware Computational Framework To Identify Structurally Tractable Targets In Proliferative Vitreoretinopathy, Mak B. Djulbegovic, Nedym Hadzijahic, David J. Taylor Gonzalez, Michael Antonietti, Sidra Zafar, Ajay E. Kuriyan

Wills Eye Hospital Papers

OBJECTIVE: Proliferative vitreoretinopathy (PVR) remains a major cause of failure after rhegmatogenous retinal detachment repair and lacks effective pharmacologic therapies. Although epithelial-mesenchymal transition (EMT) is central to PVR pathogenesis, the structural determinants governing the tractability of EMT regulators, particularly those involving intrinsic disorder, remain poorly defined. We developed a disorder-aware, artificial intelligence-enabled computational framework to evaluate EMT-associated proteins in PVR and prioritize structurally tractable regulators for structure-based targeting.

DESIGN: A computational, hypothesis-generating study employing an in silico screening and structural modeling pipeline.

SUBJECTS: No human subjects or biological specimens were included. The dataset comprised 25 EMT-associated proteins implicated in PVR, …

Brain Age Prediction In Generalized Anxiety Disorder Using A Convolutional Neural Network, Corey Richier, André Zugman, Anita Harrewijn, Elise M. Cardinale, Parmis Khosravi, Moji Aghajani, Willem B. Bruin, Kevin Hilbert, Narcis Cardoner, Anderson M. Winkler

Human Genetics Publications

Higher predicted brain age difference has been associated with several psychiatric disorders. Generalized anxiety disorder (GAD) is associated with markers of accelerated aging. In this study, we determined brain predicted age difference (PAD) in individuals with GAD and healthy controls (HC) as well as group differences in PAD variability using voxel-wise structural MRI. The training dataset included 3511 controls, and the testing dataset included 1595 individuals with GAD and 4552 HC from the ENIGMA-Anxiety GAD Working Group. A convolutional neural network model using four input modalities per subject and a model ensemble approach was used to predict brain age. The …

Investigating Cryptic Diversity In The Hawaiian Endemic Plant, Psychotria Mariniana (Rubiaceae), Uyen Thi Hoang Nguyen

Master's Theses

Islands, with their isolation and steep environmental gradients, serve as natural laboratories for studying speciation. Molecular phylogenetic and population genetic methods utilizing Next-Generation Sequencing (NGS) have revolutionized our ability to document patterns of genetic divergence and diversity. Cryptic diversity, genetically distinct populations that were previously unrecognized as unique, and cryptic speciation, where divergent genetic populations may be deserving of status as unique species, have been observed in many taxa. The Hawaiian Islands provide an ideal setting for studying divergence and speciation due to their extreme isolation, known ages, and volcanic origin. Previous work has investigated the evolutionary relationships of the …

Exploring Biogeographical Ancestry Inference Of New York Residents Using A 45 Indel Panel, Amanda Martinez

Student Theses

Biogeographical ancestry (BGA) inference is an important tool in forensic science, providing supplemental information when comparison/reference DNA is not available for traditional DNA analyses. Insertion/deletion polymorphisms (INDELs) have been used in the last decade as ancestry-informative markers (AIMs) for BGA inference because they can be easily adapted to forensic-type samples and are determined using low cost and easy processing methods. Limited research has attempted to estimate ancestry and admixture in United States (U.S.) populations. This study evaluated the effectiveness of a 45- and 21- INDEL panel to measure population admixture proportions of four different origins (African, European, East Asian and …

From Cranes To Clinics: Genomic Epidemiology At The Human-Animal Interface, Sarah Shrum

Biology ETDs

Emerging infectious diseases represent a significant, increasing threat to human life, economic stability, and global security. The One Health framework, which promotes human health and wellness through the understanding that animal, environmental, and human health are interwoven, is critical to understanding pathogen emergence and transmission. This is underscored by the fact that roughly 60% of all human pathogens and 75% of emerging infectious disease are zoonotic, meaning they are transmitted from animals to humans.

The work presented in this dissertation integrates genomic epidemiology, ecological analysis, and One Health Surveillance approaches to characterize cross-species circulation of opportunistic yeast pathogens (Candida …

Methylation-Dependent Regulatory Pathway That Governs The Stability Of The Sox Family Proteins And Related Developmental Regulators, Keshari Gayathri Rajawasam

UNLV Theses, Dissertations, Professional Papers, and Capstones

The SRY (Sex-determining Region Y) protein is a transcription factor encoded on the Y chromosome and is the key regulator responsible for initiating male sex determination in mammals. During early embryonic development, SRY activates the genetic program that leads to testis formation by promoting the expression of downstream genes involved in male gonadal differentiation. Mutations or dysregulation of SRY can lead to disorders of sex development such as male-to-female sex conversion and hermaphroditism, highlighting its critical role in sex determination.

SRY belongs to the SOX (SRY-related HMG-box) family of transcription factors, which includes the proteins SOX1, SOX2 and SOX3. These …

The Competition Between Splicing And 3′ Processing Shapes The Human Transcriptome, Lindsey V. Soles, Shuangyu Li, Liang Liu, Kristianna S.K. Sarkan, Erik G. Alvstad, Lusong Tian, Yoseop Yoon, Marielle Valdez, Ivan Marazzi, Yongsheng Shi

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Eukaryotic pre-mRNA processing steps, including splicing and 3′ processing, are tightly coordinated, yet the underlying mechanisms remain incompletely understood. U1 snRNP has been proposed to inhibit 3′ processing at intronic polyadenylation (IPA) sites through a splicing-independent mechanism termed telescripting. In contrast, we discovered that disrupting splicing by using six different methods—targeting various key components such as U1 snRNP, U2 snRNP, U2AF, and SF3b—activates 3′ processing at thousands of IPA sites. Notably, splicing inhibition, especially of U1 snRNP, induced widespread premature transcription termination within gene bodies through both IPA-coupled and IPA-independent mechanisms. Inhibition of different splicing factors activated overlapping and distinct …

Associations Between Father–Mother Food Parenting Practices And Children’S Dietary Intake, Brian K. Lo, Natalie Grafft, Mariane Helen De Oliveira, Sebastien Haneuse, In Young Park, Alejandra Cantu-Aldana, Katherine W. Bauer, Rebekah Levine Coley, Jorge E. Chavarro, Kirsten K. Davison, Jess Haines

Human Genetics Publications

Objective: To examine whether the number of parents using high levels of structure or coercive control food parenting practices is associated with children’s dietary intake.

Design: Cross-sectional analysis of father–mother dyads from the Fathers & Families cohort study. Fathers and mothers independently reported their food parenting practices and child’s dietary intake. Multivariate logistic regression models estimated associations between the number of parents (0, 1 or 2) using high structure or coercive control practices and children’s intake of fruit, vegetables, fast food and sugar-sweetened beverages (SSB), adjusting for demographics and recruitment site.

Setting: United States

Participants: 474 father–mother dyads with a …

Environmental Dna (Edna) Assessment Of Fish And Decapod Diversity And Their Association With Cetacean Distribution In Matang Coastal Waters, Perak, Lim Chuan Hui

Student Works (2020-2029)

The estuarine and coastal regions of Matang, Perak, Peninsular Malaysia, are vital fishing grounds and recognised biodiversity hotspots, but are increasingly exposed to human activities. Understanding the biodiversity of marine fish and decapods is crucial for effective conservation efforts. Conventional biodiversity monitoring methods face several challenges, including invasiveness, inconsistencies in sampling techniques, reduced taxonomic accuracy, time-consuming processes, high costs, and often only providing approximate estimates. In this study, we evaluated the use of environmental DNA (eDNA) metabarcoding to assess marine fish and decapod diversity in Matang waters and to explore possible associations between fish assemblages and local cetacean occurrence. Water …

The Influence Of Prosthetic Obturators On Quality Of Life In Individuals With Maxillectomy Defects, Minseok Kim

Oral Health

Abstract

Introduction: In recent years, there has been a growing focus on understanding the impact of oral cancer on patients' quality of life. Prosthetic rehabilitation techniques, such as maxillary obturators, often in conjunction with reconstructive surgery, have emerged as interventions to address the challenges posed by post-maxillectomy abnormalities.

Objective: This study aims to systematically review and evaluate the effectiveness of maxillofacial prosthetic rehabilitation using obturators in enhancing the quality of life of patients following maxillectomy.

Methodology: Systematic review of identified literature spanning the timeframe from 2000 to 2020 was used. The comprehensive search encompassed widely recognized databases including PubMed, …

Isolation And Quantification Of Rna From Extracellular Vesicles Derived From A549 Human Non-Small Cell Lung Cancer Cells Using Ultracentrifugation, Yousef Dimian, Vanessa Pizutelli, Dimitri Pestov

Rowan-Virtua Research Day

Extracellular vesicles (EVs) have gained attention as potential diagnostic tools due to their presence in body fluids and their ability to carry nucleic acids, including RNA. EV-derived RNA, particularly ribosomal RNA (rRNA), may reflect cellular stress and disease states, making it a promising biomarker1, 2. This project focuses on optimizing methods to isolate EVs and quantify their RNA content using human cell culture models. Differential ultracentrifugation was used to separate vesicle populations based on size, followed by RNA extraction and quantification using a high-sensitivity assay. Initial experiments using media from three 150 mm culture dishes yielded no detectable RNA, whereas …

Identification Of Genes Regulating The Gli Protein Tra-1 In ​Caenorhabditis Briggsae Through A Genetic Suppressor Screen​, Alexander Glenn Cabrera, Sanese Brown-White, Ronald Ellis

Rowan-Virtua Research Day

BACKGROUND:
Gli proteins are conserved transcription factors that regulate cell fate, proliferation, and patterning. In Caenorhabditis briggsae, the Gli protein TRA-1 functions as the terminal regulator of the sex-determination pathway to control sexual development. These nematodes lack Hedgehog signaling, so TRA-1 is regulated by other factors. The missense mutation tra-1(v48) disrupts TRA-1 activator function, resulting in complete feminization of XX animals, which would otherwise be hermaphrodites.

HYPOTHESIS:
Suppressor screens using tra-1(v48) mutants will identify novel cofactors required for TRA-1–mediated Gli activation and spermatogenesis.

METHODS:
Ethyl methanesulfonate (EMS) mutagenesis was performed on tra-1(v48) strains to induce random mutations. Dominant suppressors were …

Quantifying Genetic Diversity In Nematode Feeding Rate, Jacob King

Honors Theses

Understanding how populations persist under changing environmental conditions is a central question in ecology and evolutionary biology. Variation in traits related to resource acquisition may play a key role in determining population survival when resources are limited or fluctuate over time. In this study, I investigated how variation in feeding-related traits influences population persistence using a combination of computational modeling and laboratory experiments. I developed a stochastic, individual-based consumer–resource model to simulate population dynamics across varying levels of trait variance and resource regimes. Across 60,000 simulated populations, increased trait variation consistently reduced extinction risk and extended persistence time, although the …

Navigating The Genetic Frontier: Clinical And Ethical Implications Of Free Genetic Testing In India, Preetha Vijayalakshmi

Journal Of Indian Physician Associates

The expansion of free genetic testing services in India, resulting from government policies like the Ayushman Bharat Digital Mission, corporate-sponsored initiatives, and international collaborations, makes it easier to access genomic services for early identification of inherited disorders such as thalassemia, sickle cell anemia, and certain genetic kidney diseases, particularly in tribal populations. However, this review reveals significant clinical and ethical challenges. Clinically, Western-based genotyping platforms, not tailored to India’s genetic diversity, risk inaccurate results, including false positives and negatives, complicating clinical decision-making. A shortage of genetic counsellors and inadequate post-test care leaves patients, especially in rural areas, struggling within fragmented …

An Investigation Of Entamoeba Histolytica Chitin Synthases And Other Encystation Factors In Early Encystation, John N. Talledo

All Theses

Entamoeba histolytica is a food-and-water-borne human protozoan pathogen that relies on a two-stage life cycle for successful proliferation outside of the host. E. histolytica exists in its dormant cyst form while outside of its host and converts to the motile trophozoite (amoeba) form in the small intestine. The trophozoites colonize the large intestine to cause symptomatic disease in ~10% of infections, resulting in ~100 million cases of amoebic dysentery each year. Trophozoites can convert back to the cyst form, which is shed in feces to continue the infection cycle.

Currently, there is a lack of understanding of the exact molecular …

Denisovan Introgression And Selection At Cntnap2 In Ancient And Modern American Populations, Matthew Barker

All Theses

The peopling of the Americas created new opportunities for genetic adaptation as ancient populations encountered novel environments across North and South America. Previous research has shown that segments of Indigenous American ancestry contain elevated proportions of Denisovan alleles. The gene CNTNAP2, which is involved in brain development and neuronal function, contains a Denisovan-derived haplotype that represents a candidate locus for adaptive introgression in admixed American populations. A Denisovan-derived core haplotype approximately 55 kb in length was identified within intron 13 of CNTNAP2. This haplotype is primarily found in admixed American populations and occurs rarely outside the Americas, and …