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Full-Text Articles in Genetics and Genomics

Pilbara Demersal Scalefish Resource Recovery Plan 2023- 2043 (Phase 1), Department Of Primary Industries And Regional Development, Western Australia Sep 2024

Pilbara Demersal Scalefish Resource Recovery Plan 2023- 2043 (Phase 1), Department Of Primary Industries And Regional Development, Western Australia

Fisheries Management Papers

The Pilbara Demersal Scalefish Resource (PDSR) includes over 60 demersal scalefish species. The resource is accessed by the Pilbara Trap Managed Fishery, Pilbara Fish Trawl (Interim) Managed Fishery, and the Pilbara Line Fishery (PTMF, PFTIMF & PLF respectively) as well as the recreational and charter fisheries.

The PDSR is managed in accordance with the North Coast Demersal Scalefish Resource Harvest Strategy (Harvest Strategy). The sustainability objectives of the PDSR are set out in the Harvest Strategy and monitored via the use of an indicator species approach, whereby the status of key species is considered representative of the status of the …


Psychosocial Outcomes Of Pain And Pain Management In Adults With Osteogenesis Imperfecta: A Qualitative Study, Whitney S Shepherd, Andrew D Wiese, Hannah E Cho, W Conor Rork, M Usman Baig, Kristin M Kostick, Dianne Nguyen, Erin M Carter, Members Of The Bbdc, Chaya N Murali, Marie-Eve Robinson, Sophie C Schneider, Brendan Lee, V Reid Sutton, Eric A Storch Sep 2024

Psychosocial Outcomes Of Pain And Pain Management In Adults With Osteogenesis Imperfecta: A Qualitative Study, Whitney S Shepherd, Andrew D Wiese, Hannah E Cho, W Conor Rork, M Usman Baig, Kristin M Kostick, Dianne Nguyen, Erin M Carter, Members Of The Bbdc, Chaya N Murali, Marie-Eve Robinson, Sophie C Schneider, Brendan Lee, V Reid Sutton, Eric A Storch

Faculty, Staff and Students Publications

Objectives

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures, short stature, dental abnormalities, hearing loss, scoliosis, and chronic pain. Despite a growing literature on the functional outcomes of OI, limited research has explicitly examined the psychosocial outcomes of pain within OI.

Methods

Adults with OI (N=15) were interviewed to understand pain-related experiences through a thematic analysis of semi-structured interview data. Research team members, genetic research experts, and OI clinicians developed an interview guide focused on topics related to pain and mental health challenges. Participants’ transcripts were coded by two independent coders; codes were then merged …


Ocular Gene Transfer In The Spotlight: Implications Of Newspaper Content For Clinical Communications, Shelly Benjaminy, Tania M. Bubela Jul 2024

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 …


An Epigenetically Driven Relationship Between Parental Ptsd And Inflammatory Disease In Offspring: A Proposal, Emma Griffith, Kevin P. Kaut Jun 2024

An Epigenetically Driven Relationship Between Parental Ptsd And Inflammatory Disease In Offspring: A Proposal, Emma Griffith, Kevin P. Kaut

Journal of Neuropsychology and Behavioral Processes

Could a combat veteran's horrific experiences in early-2000s Afghanistan have a direct, biological impact on his or her now-adult daughter's risk of a heart attack later in her life? This concept would have been unapologetically mocked a mere twenty years ago, and it has only been in the past decade that the new field of epigenetics has revealed a distinct possibility for this event to actually take place—for parents' experiences to profoundly influence the biology of their children. The major objective of this research project is to argue for the legitimacy of this theoretical phenomenon by discussing the latest data …


Du Undergraduate Showcase Abstracts: Research, Scholarship, And Creative Works, August Alexander, Kevin Summers, E. Paige Lloyd, Alyssa Aragon, Lauren Wols, Erica Larson, Colton Arciniaga, Lily Baeza, Ellie Barnett-Cashman, Sidney Barbier, Maverick Bartholomew, Ryan Bell, Trevor Briggs, Amanda Brown, Cory Marchi, Maddy Pontius, Jennifer Gallagher, Claire Kwok, Channing Bullock, Alex Mccollister, Kim Gorgens, Daniela Chavez, Yamilet Espinoza Nuñez, Giovanni Valladares Giron, William Christensen, Olivia Kachulis, Daniel Cierasynski, Brandon Cohen, Spenser Dobbs, Lindsay Goolsby, Noah Craver, Nyah Cubbison, Liam Doherty, Nicole Doris, Yan Qin, Alexander Nguyen, Lily Harmon, Shubh Todi, Naichen Zhao, Noah Fagello, Stacia Fritz, Paola Gascot-Chinea, Alex Volkova, Janelyn Geronimo, Elsie Harrington, Shane Simmons, Clarice Hise, Laura Moreno Palmer, Henry Xu, Yesu Leela Pasupula, Emily Fisher, Zachary Hogan, Colin Kleckner, Alyssa Knaus, Erin Kubat, Sam Werkema, Katie Lamberton, Lilliya Larson, Allie Leary, Vanessa Leon-Gamez, James H. Gallagher, E. Dale Broder, Robin M. Tinghitella, Emma Loeber, Alina Mali, Ixchel Marquez, Lauren Mcgrath, Ella Matthews, Grace Naegelen, Audrey Ng, Megan Lucyshyn, Rachel Brough, Alexandra Norman, Joe Ontiveros Rodriguez, Ben Dossett, Ori Miller, Janamejay Sharma, Christopher Reardon, Vincent Pandey, Regan Parish, Ren Pratt, Alisha Pravasi, Sanchari Das, Cari Reichel, Emma Robson, Victoria Rockwell, Jayce Rumsey, Steven Said, Norah Schroder, Alaina Smith, Shannon Murphy, Shujan A. Sharafeldeen, Stanley M. Kanai, James T. Nichols, David E. Clouthier, Macalia R. Augustus, Daniel Silva Rios, Scott Simpson, Anna Sparling, Chase Spurbeck, Kimberly Chiew, Christine Stadnik-Poteroba, Jacqueline Stephenson, Evelyn Stovin, Mia Supan, Lauren Tapper, Will Thrush, Anna Vogt, Michaela Walheim, Jon Weber, Hunter Whitehouse, Kansas Wood, Hayley Sayre, Lydia Mccann, Maread Mclaughlin, Kelly Krumrie, Olivia Wuttke May 2024

Du Undergraduate Showcase Abstracts: Research, Scholarship, And Creative Works, August Alexander, Kevin Summers, E. Paige Lloyd, Alyssa Aragon, Lauren Wols, Erica Larson, Colton Arciniaga, Lily Baeza, Ellie Barnett-Cashman, Sidney Barbier, Maverick Bartholomew, Ryan Bell, Trevor Briggs, Amanda Brown, Cory Marchi, Maddy Pontius, Jennifer Gallagher, Claire Kwok, Channing Bullock, Alex Mccollister, Kim Gorgens, Daniela Chavez, Yamilet Espinoza Nuñez, Giovanni Valladares Giron, William Christensen, Olivia Kachulis, Daniel Cierasynski, Brandon Cohen, Spenser Dobbs, Lindsay Goolsby, Noah Craver, Nyah Cubbison, Liam Doherty, Nicole Doris, Yan Qin, Alexander Nguyen, Lily Harmon, Shubh Todi, Naichen Zhao, Noah Fagello, Stacia Fritz, Paola Gascot-Chinea, Alex Volkova, Janelyn Geronimo, Elsie Harrington, Shane Simmons, Clarice Hise, Laura Moreno Palmer, Henry Xu, Yesu Leela Pasupula, Emily Fisher, Zachary Hogan, Colin Kleckner, Alyssa Knaus, Erin Kubat, Sam Werkema, Katie Lamberton, Lilliya Larson, Allie Leary, Vanessa Leon-Gamez, James H. Gallagher, E. Dale Broder, Robin M. Tinghitella, Emma Loeber, Alina Mali, Ixchel Marquez, Lauren Mcgrath, Ella Matthews, Grace Naegelen, Audrey Ng, Megan Lucyshyn, Rachel Brough, Alexandra Norman, Joe Ontiveros Rodriguez, Ben Dossett, Ori Miller, Janamejay Sharma, Christopher Reardon, Vincent Pandey, Regan Parish, Ren Pratt, Alisha Pravasi, Sanchari Das, Cari Reichel, Emma Robson, Victoria Rockwell, Jayce Rumsey, Steven Said, Norah Schroder, Alaina Smith, Shannon Murphy, Shujan A. Sharafeldeen, Stanley M. Kanai, James T. Nichols, David E. Clouthier, Macalia R. Augustus, Daniel Silva Rios, Scott Simpson, Anna Sparling, Chase Spurbeck, Kimberly Chiew, Christine Stadnik-Poteroba, Jacqueline Stephenson, Evelyn Stovin, Mia Supan, Lauren Tapper, Will Thrush, Anna Vogt, Michaela Walheim, Jon Weber, Hunter Whitehouse, Kansas Wood, Hayley Sayre, Lydia Mccann, Maread Mclaughlin, Kelly Krumrie, Olivia Wuttke

DU Undergraduate Research Journal Archive

Abstracts from the DU Undergraduate Research Showcase.


Big Life-Science: Study Of Omics From Microscopic To Mesoscopic Scales, Jiarui Wu May 2024

Big Life-Science: Study Of Omics From Microscopic To Mesoscopic Scales, Jiarui Wu

Bulletin of Chinese Academy of Sciences (Chinese Version)

The human genome project at the turn of the century opened a new era of life science research and formed various omics characterized by holistic high-throughput research. The initial omics research was mainly carried out at the molecular level, such as genomics, transcriptomics, proteomics, etc., showing a new paradigm of data-driven research. With the development of research technologies, the omics research has risen to the mesoscopic level, the representative is the “Human Cell Atlas” project launched in 2017. At present, researchers have been able to carry out omics research at the level of tissues, organs, and even individuals, and resulted …


Synthetic Biology Enablement: From Academic Development To Industrial Transformation, Yan Xiong, Xueqing Ma, Daming Chen, Xiao Liu, Guoping Zhao May 2024

Synthetic Biology Enablement: From Academic Development To Industrial Transformation, Yan Xiong, Xueqing Ma, Daming Chen, Xiao Liu, Guoping Zhao

Bulletin of Chinese Academy of Sciences (Chinese Version)

Synthetic biology revolutionizes the comprehension of life systems from an engineering perspective, employing a “bottomup” approach in life science research. It adopts an iterative research paradigm of “design-build-test-learn” in life science research and creates engineered new life systems grounded in genomics and systems biology. This provides a new pathway of “from creation to understanding” for life sciences, departing from the traditional reductionist research strategy of “study the whole to understand the parts” and opening up a new culture of “building to understand” the essence of life. Additionally, synthetic biology elevates existing biotechnologies previously based on “simulating natural processes” and “genetic …


Promoting Ecosystem Based Marine Management Through A Marine Ecological Classification And Zoning System, Wenhai Lu, Xiao Li, Meng Cui May 2024

Promoting Ecosystem Based Marine Management Through A Marine Ecological Classification And Zoning System, Wenhai Lu, Xiao Li, Meng Cui

Bulletin of Chinese Academy of Sciences (Chinese Version)

Ecosystem based ocean management is an important means of building marine ecological civilization. The current marine ecological classification and zoning in China comprehensively sorts out the types and natural geographical characteristics of marine ecosystems, divided the Chinese seas and adjacent waters into several levels of ecological spatial units according to different scales, effectively characterizes the geographical distribution features of marine biological communities and their habitats, and provides effective support for ecosystem based marine management. This study analyzed the practical significance of marine ecological classification and zoning. Based on a review of the development of marine ecological classification and zoning, this …


The Use Of Microbiome Sequencing To Identify Individuals In Forensic Science, Sophia Konieczny May 2024

The Use Of Microbiome Sequencing To Identify Individuals In Forensic Science, Sophia Konieczny

Themis: Research Journal of Justice Studies and Forensic Science

The Human Genome Project's (HGP) completion in 2003 laid the groundwork for further research into the human body. This paved the way for microbiome sequencing, revealing the diverse microbial communities within the human body. These advancements led to the emergence of microbial forensics, leveraging Next Generation Sequencing (NGS) technologies like Amplicon sequencing and shotgun metagenomics for individual identification. Unlike traditional genetic profiling, microbiome analysis provides insights beyond genetic profiling, offering information about an individual's lifestyle and environment. Microbial communities on the skin's surface and objects can serve as trace evidence, aiding in suspect identification and investigative leads. Despite its promise, …


West Coast Rock Lobster Resource Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia May 2024

West Coast Rock Lobster Resource Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia

Fisheries Management Papers

Harvest strategies for Western Australia’s (WA) aquatic resources are formal documents developed by the Department of Primary Industries and Regional Development (DPIRD, the Department) to support decision-making processes that ensure the outcomes are consistent with the principles of Ecologically Sustainable Development (ESD; Fletcher 2002a) and Ecosystem Based Fisheries Management (EBFM; Fletcher et al. 2012). Harvest strategies are a key component of all contemporary fishery management systems and a requirement for certification under the Marine Stewardship Council (MSC). The objectives of ESD are reflected in the objectives of the Fish Resources Management Act 1994 (FRMA) and the Aquatic Resources Management Act …


Patient Understanding Of Fetal Sex Versus Gender In The Context Of Routine Cell-Free Dna Screening, Mindy Kolodziejski May 2024

Patient Understanding Of Fetal Sex Versus Gender In The Context Of Routine Cell-Free Dna Screening, Mindy Kolodziejski

Dissertations and Theses (Open Access)

Non-invasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA (cfDNA). NIPT screens for sex chromosome aneuploidies (SCAs) and in doing so, can predict fetal chromosomal sex. Despite sex and gender being distinct concepts, many patients refer to NIPT as “the gender test” and elect testing in order to find out predicted fetal sex and assume gender. Our study aimed to evaluate and describe patient understanding of sex and gender in the context of receiving routine prenatal genetics education (PGE) on NIPT. A survey was developed with the goal of assessing patient …


Inclusion Of Adoption As A Pregnancy Management Option In Prenatal Genetic Counseling Practice, Emma Billings May 2024

Inclusion Of Adoption As A Pregnancy Management Option In Prenatal Genetic Counseling Practice, Emma Billings

Dissertations and Theses (Open Access)

Prenatal genetic counselors are essential to providing education, psychosocial support, and guidance on pregnancy options to patients who receive a fetal diagnosis of an anomaly or genetic condition. Therefore, genetic counselors should be well-educated on comprehensive pregnancy management options consisting of parenting, abortion, and adoption. The landscape of adoption education in genetic counseling practice was last characterized in 2010 by Perry and Henry, revealing substantial variability in both the inclusion of adoption-specific education in genetic counseling program (GCP) curricula and the discussion of pregnancy options with patients in prenatal practice. As a result, the authors published a call to action …


Fraud In Genetic Testing: Swindling The System, Rachel Notestine, Rachel Notestine, Claire N. Singletary May 2024

Fraud In Genetic Testing: Swindling The System, Rachel Notestine, Rachel Notestine, Claire N. Singletary

Dissertations and Theses (Open Access)

Healthcare fraud comprises a sizable portion of the United States healthcare expenditure and inflicts strain on payors, patients, and the healthcare system overall. The genetic testing industry is rapidly growing which provides a multitude of fraud opportunities. There is limited research exploring genetic testing fraud, although federal organizations have highlighted it as an issue. In this study, a retrospective review of federal websites, news articles, and a legal database identified 42 cases of fraud involving outpatient genetic testing published between February 2019 and December 2023. These cases were analyzed for themes via inductive conventional content analysis. Themes of fraudulent activity …


Applicability Of Fibrous Cellulose –D In Extracting Double-Stranded Rna (Dsrna) Of Tobrfv, Raed Alkow, Reem Hijaz, Beesan Jamoos, Najah Khandaqji, We’Am Daraghmeh, Saja Salah, Alaa Bari, Rahaf Ben Ali, Osama Alabdalla Mar 2024

Applicability Of Fibrous Cellulose –D In Extracting Double-Stranded Rna (Dsrna) Of Tobrfv, Raed Alkow, Reem Hijaz, Beesan Jamoos, Najah Khandaqji, We’Am Daraghmeh, Saja Salah, Alaa Bari, Rahaf Ben Ali, Osama Alabdalla

Jerash for Research and Studies Journal مجلة جرش للبحوث والدراسات

The viral replicative form double strand RNA (dsRNA) is a unique feature to the plant RNA viruses that used for non-specific detection of plant viruses. For decades; fibrous cellulose -11 (CF11) was used for dsRNA purification, but recently was no-more produced. Other fibrous celluloses (CF-A; -B; -C; -D; and –E) were suggested as alternatives to CF11. This study was to evaluate the applicability and reproducibility of using CF-D with two different dsRNA extracting methods: micro-spin column and modified Dodds extraction methods. The best results were recorded on Dodds extraction method over micro-spin one. This results also confirmed the applicability of …


The Ddhd2-Stxbp1 Interaction Mediates Long-Term Memory Via Generation Of Saturated Free Fatty Acids, Isaac O Akefe, Saber H Saber, Benjamin Matthews, Bharat G Venkatesh, Rachel S Gormal, Daniel G Blackmore, Suzy Alexander, Emma Sieriecki, Yann Gambin, Jesus Bertran-Gonzalez, Nicolas Vitale, Yann Humeau, Arnaud Gaudin, Sevannah A Ellis, Alysee A Michaels, Mingshan Xue, Benjamin Cravatt, Merja Joensuu, Tristan P Wallis, Frédéric A Meunier Feb 2024

The Ddhd2-Stxbp1 Interaction Mediates Long-Term Memory Via Generation Of Saturated Free Fatty Acids, Isaac O Akefe, Saber H Saber, Benjamin Matthews, Bharat G Venkatesh, Rachel S Gormal, Daniel G Blackmore, Suzy Alexander, Emma Sieriecki, Yann Gambin, Jesus Bertran-Gonzalez, Nicolas Vitale, Yann Humeau, Arnaud Gaudin, Sevannah A Ellis, Alysee A Michaels, Mingshan Xue, Benjamin Cravatt, Merja Joensuu, Tristan P Wallis, Frédéric A Meunier

Faculty, Staff and Students Publications

The phospholipid and free fatty acid (FFA) composition of neuronal membranes plays a crucial role in learning and memory, but the mechanisms through which neuronal activity affects the brain's lipid landscape remain largely unexplored. The levels of saturated FFAs, particularly of myristic acid (C14:0), strongly increase during neuronal stimulation and memory acquisition, suggesting the involvement of phospholipase A1 (PLA1) activity in synaptic plasticity. Here, we show that genetic ablation of the PLA1 isoform DDHD2 in mice dramatically reduces saturated FFA responses to memory acquisition across the brain. Furthermore, DDHD2 loss also decreases memory performance in reward-based learning and spatial memory …


Recovering Ancient Dna Using The Polymerase Chain Reaction, Rose Jennings Jan 2024

Recovering Ancient Dna Using The Polymerase Chain Reaction, Rose Jennings

Undergraduate Research Symposium

Investigations into aDNA offer a window into the past that modern DNA and paleontological studies alone cannot provide and help address the evolution and connections between hominids, domestication timelines, the analysis of populations over time, and general diversity. Progress in aDNA research has been inherently technology-driven, with modern molecular biology methods, such as the inventions of Polymerase Chain Reaction (PCR) and Next Generation Sequencing (NGS), substantially increasing the analysis possibilities of aDNA. My research this semester has taken me along two parallel paths of investigation: literary research into aDNA and practical exposure to the laboratory techniques used in its analysis. …


Recent Progress And Perspectives On Development Of Gene Editing Tools, Zixian Liu, Chengping Li, Gogo Jun-Jie Liu Jan 2024

Recent Progress And Perspectives On Development Of Gene Editing Tools, Zixian Liu, Chengping Li, Gogo Jun-Jie Liu

Bulletin of Chinese Academy of Sciences (Chinese Version)

The gene editing field has witnessed remarkable advancements in recent years, leading to the establishment and refinement of multidimensional gene editing platforms. These innovations have enabled precise targeted gene knockout, repair, and insertion. These tools have stimulated significant progress in fundamental research, therapeutics, agriculture, environment protection, and industrial applications. In this review, we provide a comprehensive overview of the milestones in gene editing tool development and offer perspectives on potential future directions for this rapidly evolving field.


Research On Innovative Development Path And Policy Guarantee Of China’S Synthetic Biology Industry, Hongjun Geng, Chang Wang Jan 2024

Research On Innovative Development Path And Policy Guarantee Of China’S Synthetic Biology Industry, Hongjun Geng, Chang Wang

Bulletin of Chinese Academy of Sciences (Chinese Version)

Synthetic biology is hailed as the third revolution in life sciences after the discovery of the DNA double helix structure and genomic technology, and is the core driving force for the leapfrog development of next-generation biomanufacturing and the future bioeconomy, opening up an opportunity window for the reshaping of the global manufacturing map. How to strategically position the synthesis biology industry and seize the strategic high ground in the industry is a core topic of interest for global science and technology powers and manufacturing powers. Based on the identification of problems in the development of China’s synthesis biology industry, this …


Precommentary: Animal Personality Needs Animal Sentience, Ralph Adolphs, Yue Xu Jan 2024

Precommentary: Animal Personality Needs Animal Sentience, Ralph Adolphs, Yue Xu

Animal Sentience

We are grateful to Owens, Bryja & Bekoff (2024) for their important discussion of individual differences in animals, emphasizing the role of personality in conservation, wildlife research, and wellbeing. But their emphasis also raises new challenges: How should we conceive of personality in nonhuman species? what modern tools could be leveraged to best measure it? and, perhaps most important of all: how can we ensure that the conscious experience of animals — their capacity for wellbeing and for suffering — is not forgotten along the way? We touch on each of these challenges in this invited Precommentary in the hope …


Epigenetics And Character Virtue Development, David S. Moore Jan 2024

Epigenetics And Character Virtue Development, David S. Moore

Pitzer Faculty Publications and Research

Current understandings of epigenetics offer some insights into the developmental origins of character virtues. Research on epigenetics has demonstrated that phenotypes depend on both genomic and non-genomic information for their development, and such is true for the development of character virtues as well. This conclusion offers significant support for the Developmental Systems perspective. Although researchers have not yet studied the role of molecular epigenetic factors in the development of character, the field of behavioral epigenetics has revealed how such factors contribute to psychological and other behavioral phenotypes in general. In particular, behavioral epigenetics research can highlight the plasticity of human …


Electrophysiological And Clinical Fundamentals Of Qtc Prolongation Induced By Antipsychotic Medications, Zaid Naseer, Minaal Khan, Najeeb Manalai, Allison Foroobar, Patricia Harrison, Charles Scercy, Beth Yanoff, Partam Manalai Jan 2024

Electrophysiological And Clinical Fundamentals Of Qtc Prolongation Induced By Antipsychotic Medications, Zaid Naseer, Minaal Khan, Najeeb Manalai, Allison Foroobar, Patricia Harrison, Charles Scercy, Beth Yanoff, Partam Manalai

Department Surgery Faculty Publications

Patients with psychiatric disorders undergoing antipsychotic treatment are at an elevated risk for adverse cardiovascular events, including arrhythmias and sudden cardiac death. While the precise mechanisms linking cardiovascular diseases and psychiatric conditions remain unclear, QTc prolongation is suspected to be a contributing factor. The human ether-à-go-go-related gene (hERG, or KCNH2), which affects potassium channels, is implicated in the cardiotoxicity of various medications, including antipsychotics. This gene plays a critical role in determining whether a drug will be approved for market use. This paper elucidates the electrophysiological basis of QTc prolongation and reviews the evidence concerning which antipsychotics may exacerbate QTc …


Further Optimization Of A Simplified Protocol For Tooth Sample Preparation For Analysis Using The Applied Biosystems™ Rapidhit™ Id Instrument, Yen H. Dang Jan 2024

Further Optimization Of A Simplified Protocol For Tooth Sample Preparation For Analysis Using The Applied Biosystems™ Rapidhit™ Id Instrument, Yen H. Dang

Master of Science in Forensic Science Directed Research Projects

Due to the destructive nature of mass casualty incidents (MCIs) or mass fatality events (MFEs), tooth samples are often one of the only viable sources for Disaster Victim Identification (DVI) because of the incredible integrity of the enamel layer surrounding the tooth. However, the resilient structure of the tooth requires harsh chemicals and a labor-intensive sample preparation protocol to ensure successful STR profile development. Considering this difficulty, one of the promising resolutions is the Applied Biosystems RapidHIT™ ID ID platform, which is a fully automated system that is designed to perform cell lysis, DNA isolation, polymerase chain reaction (PCR) amplification, …


Refining The Scope Of Genetic Influences On Alcohol Misuse Through Environmental Stratification And Gene-Environment Interaction, Jeanne E. Savage, Christiaan A. De Leeuw, Josefin Werme, Spit For Science Working Group, Danielle M. Dick, Danielle Posthuma, Sophie Van Der Sluis Jan 2024

Refining The Scope Of Genetic Influences On Alcohol Misuse Through Environmental Stratification And Gene-Environment Interaction, Jeanne E. Savage, Christiaan A. De Leeuw, Josefin Werme, Spit For Science Working Group, Danielle M. Dick, Danielle Posthuma, Sophie Van Der Sluis

Psychology Faculty Publications

Background

Gene-environment interaction (G X E) is likely an important influence shaping individual differences in alcohol misuse (AM), yet it has not been extensively studied in molecular genetic research. In this study, we use a series of genome-wide gene-environment interaction (GWEIS) and in silico annotation methods with the aim of improving gene identification and biological understanding of AM.

Methods

We carried out GWEIS for four AM phenotypes in the large UK Biobank sample (N = 360,314), with trauma exposure and socioeconomic status (SES) as moderators of the genetic effects. Exploratory analyses compared stratified genome-wide association (GWAS) and GWEIS modeling approaches. …


Ai And Ml-Based Risk Assessment Of Chemicals: Predicting Carcinogenic Risk From Chemical-Induced Genomic Instability, Ajay Vikram Singh, Preeti Bhardwaj, Peter Laux, Prachi Pradeep, Madleen Busse, Andreas Luch, Akihiko Hirose, Christopher J. Osgood, Michael W. Stacey Jan 2024

Ai And Ml-Based Risk Assessment Of Chemicals: Predicting Carcinogenic Risk From Chemical-Induced Genomic Instability, Ajay Vikram Singh, Preeti Bhardwaj, Peter Laux, Prachi Pradeep, Madleen Busse, Andreas Luch, Akihiko Hirose, Christopher J. Osgood, Michael W. Stacey

Biological Sciences Faculty Publications

Chemical risk assessment plays a pivotal role in safeguarding public health and environmental safety by evaluating the potential hazards and risks associated with chemical exposures. In recent years, the convergence of artificial intelligence (AI), machine learning (ML), and omics technologies has revolutionized the field of chemical risk assessment, offering new insights into toxicity mechanisms, predictive modeling, and risk management strategies. This perspective review explores the synergistic potential of AI/ML and omics in deciphering clastogen-induced genomic instability for carcinogenic risk prediction. We provide an overview of key findings, challenges, and opportunities in integrating AI/ML and omics technologies for chemical risk assessment, …


Mosaic Chromosomal Alterations In Blood Across Ancestries Using Whole-Genome Sequencing, Yasminka A Jakubek, Ying Zhou, Adrienne Stilp, Jason Bacon, Justin W Wong, Zuhal Ozcan, Donna Arnett, Kathleen Barnes, Joshua C Bis, Eric Boerwinkle, Jennifer A Brody, April P Carson, Daniel I Chasman, Jiawen Chen, Michael Cho, Matthew P Conomos, Nancy Cox, Margaret F Doyle, Myriam Fornage, Xiuqing Guo, Sharon L R Kardia, Joshua P Lewis, Ruth J F Loos, Xiaolong Ma, Mitchell J Machiela, Taralynn M Mack, Rasika A Mathias, Braxton D Mitchell, Josyf C Mychaleckyj, Kari North, Nathan Pankratz, Patricia A Peyser, Michael H Preuss, Bruce Psaty, Laura M Raffield, Ramachandran S Vasan, Susan Redline, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Jennifer A Smith, Aaron P Smith, Margaret Taub, Kent D Taylor, Jeong Yun, Yun Li, Pinkal Desai, Alexander G Bick, Alexander P Reiner, Paul Scheet, Paul L Auer Nov 2023

Mosaic Chromosomal Alterations In Blood Across Ancestries Using Whole-Genome Sequencing, Yasminka A Jakubek, Ying Zhou, Adrienne Stilp, Jason Bacon, Justin W Wong, Zuhal Ozcan, Donna Arnett, Kathleen Barnes, Joshua C Bis, Eric Boerwinkle, Jennifer A Brody, April P Carson, Daniel I Chasman, Jiawen Chen, Michael Cho, Matthew P Conomos, Nancy Cox, Margaret F Doyle, Myriam Fornage, Xiuqing Guo, Sharon L R Kardia, Joshua P Lewis, Ruth J F Loos, Xiaolong Ma, Mitchell J Machiela, Taralynn M Mack, Rasika A Mathias, Braxton D Mitchell, Josyf C Mychaleckyj, Kari North, Nathan Pankratz, Patricia A Peyser, Michael H Preuss, Bruce Psaty, Laura M Raffield, Ramachandran S Vasan, Susan Redline, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Jennifer A Smith, Aaron P Smith, Margaret Taub, Kent D Taylor, Jeong Yun, Yun Li, Pinkal Desai, Alexander G Bick, Alexander P Reiner, Paul Scheet, Paul L Auer

Faculty, Staff and Student Publications

Megabase-scale mosaic chromosomal alterations (mCAs) in blood are prognostic markers for a host of human diseases. Here, to gain a better understanding of mCA rates in genetically diverse populations, we analyzed whole-genome sequencing data from 67,390 individuals from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program. We observed higher sensitivity with whole-genome sequencing data, compared with array-based data, in uncovering mCAs at low mutant cell fractions and found that individuals of European ancestry have the highest rates of autosomal mCAs and the lowest rates of chromosome X mCAs, compared with individuals of African or Hispanic ancestry. …


South Coast Offshore Crustacean Resource Of Western Australia Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia Sep 2023

South Coast Offshore Crustacean Resource Of Western Australia Harvest Strategy, Department Of Primary Industries And Regional Development, Western Australia

Fisheries Management Papers

Harvest strategies for aquatic resources in Western Australia (WA) that are managed by the Department of Primary Industries and Regional Development (DPIRD, the Department) are formal documents that ensures decision-making processes are consistent with the principles of Ecologically Sustainable Development (ESD; Fletcher 2002) and Ecosystem Based Fisheries Management (EBFM; Fletcher et al. 2012). The objectives of ESD are reflected in the objects of the Fish Resources Management Act 1994 (FRMA) and the Aquatic Resources Management Act 2016 (ARMA), which is anticipated replace the FRMA once enacted. At this point, the Fish Resources Management Regulations 1995 (FRMR) is also anticipated to …


Evaluating Approaches For Constructing Polygenic Risk Scores For Prostate Cancer In Men Of African And European Ancestry, Burcu F Darst, Jiayi Shen, Ravi K Madduri, Alexis A Rodriguez, Yukai Xiao, Xin Sheng, Edward J Saunders, Tokhir Dadaev, Mark N Brook, Thomas J Hoffmann, Kenneth Muir, Peggy Wan, Loic Le Marchand, Lynne Wilkens, Ying Wang, Johanna Schleutker, Robert J Macinnis, Cezary Cybulski, David E Neal, Børge G Nordestgaard, Sune F Nielsen, Jyotsna Batra, Judith A Clements, Australian Prostate Cancer Bioresource, Henrik Grönberg, Nora Pashayan, Ruth C Travis, Jong Y Park, Demetrius Albanes, Stephanie Weinstein, Lorelei A Mucci, David J Hunter, Kathryn L Penney, Catherine M Tangen, Robert J Hamilton, Marie-Élise Parent, Janet L Stanford, Stella Koutros, Alicja Wolk, Karina D Sørensen, William J Blot, Edward D Yeboah, James E Mensah, Yong-Jie Lu, Daniel J Schaid, Stephen N Thibodeau, Catharine M West, Christiane Maier, Adam S Kibel, Géraldine Cancel-Tassin, Florence Menegaux, Esther M John, Eli Marie Grindedal, Kay-Tee Khaw, Sue A Ingles, Ana Vega, Barry S Rosenstein, Manuel R Teixeira, Nc-La Pcap Investigators, Manolis Kogevinas, Lisa Cannon-Albright, Chad Huff, Luc Multigner, Radka Kaneva, Robin J Leach, Hermann Brenner, Ann W Hsing, Rick A Kittles, Adam B Murphy, Christopher J Logothetis, Susan L Neuhausen, William B Isaacs, Barbara Nemesure, Anselm J Hennis, John Carpten, Hardev Pandha, Kim De Ruyck, Jianfeng Xu, Azad Razack, Soo-Hwang Teo, Canary Pass Investigators, Lisa F Newcomb, Jay H Fowke, Christine Neslund-Dudas, Benjamin A Rybicki, Marija Gamulin, Nawaid Usmani, Frank Claessens, Manuela Gago-Dominguez, Jose Esteban Castelao, Paul A Townsend, Dana C Crawford, Gyorgy Petrovics, Graham Casey, Monique J Roobol, Jennifer F Hu, Sonja I Berndt, Stephen K Van Den Eeden, Douglas F Easton, Stephen J Chanock, Michael B Cook, Fredrik Wiklund, John S Witte, Rosalind A Eeles, Zsofia Kote-Jarai, Stephen Watya, John M Gaziano, Amy C Justice, David V Conti, Christopher A Haiman Jul 2023

Evaluating Approaches For Constructing Polygenic Risk Scores For Prostate Cancer In Men Of African And European Ancestry, Burcu F Darst, Jiayi Shen, Ravi K Madduri, Alexis A Rodriguez, Yukai Xiao, Xin Sheng, Edward J Saunders, Tokhir Dadaev, Mark N Brook, Thomas J Hoffmann, Kenneth Muir, Peggy Wan, Loic Le Marchand, Lynne Wilkens, Ying Wang, Johanna Schleutker, Robert J Macinnis, Cezary Cybulski, David E Neal, Børge G Nordestgaard, Sune F Nielsen, Jyotsna Batra, Judith A Clements, Australian Prostate Cancer Bioresource, Henrik Grönberg, Nora Pashayan, Ruth C Travis, Jong Y Park, Demetrius Albanes, Stephanie Weinstein, Lorelei A Mucci, David J Hunter, Kathryn L Penney, Catherine M Tangen, Robert J Hamilton, Marie-Élise Parent, Janet L Stanford, Stella Koutros, Alicja Wolk, Karina D Sørensen, William J Blot, Edward D Yeboah, James E Mensah, Yong-Jie Lu, Daniel J Schaid, Stephen N Thibodeau, Catharine M West, Christiane Maier, Adam S Kibel, Géraldine Cancel-Tassin, Florence Menegaux, Esther M John, Eli Marie Grindedal, Kay-Tee Khaw, Sue A Ingles, Ana Vega, Barry S Rosenstein, Manuel R Teixeira, Nc-La Pcap Investigators, Manolis Kogevinas, Lisa Cannon-Albright, Chad Huff, Luc Multigner, Radka Kaneva, Robin J Leach, Hermann Brenner, Ann W Hsing, Rick A Kittles, Adam B Murphy, Christopher J Logothetis, Susan L Neuhausen, William B Isaacs, Barbara Nemesure, Anselm J Hennis, John Carpten, Hardev Pandha, Kim De Ruyck, Jianfeng Xu, Azad Razack, Soo-Hwang Teo, Canary Pass Investigators, Lisa F Newcomb, Jay H Fowke, Christine Neslund-Dudas, Benjamin A Rybicki, Marija Gamulin, Nawaid Usmani, Frank Claessens, Manuela Gago-Dominguez, Jose Esteban Castelao, Paul A Townsend, Dana C Crawford, Gyorgy Petrovics, Graham Casey, Monique J Roobol, Jennifer F Hu, Sonja I Berndt, Stephen K Van Den Eeden, Douglas F Easton, Stephen J Chanock, Michael B Cook, Fredrik Wiklund, John S Witte, Rosalind A Eeles, Zsofia Kote-Jarai, Stephen Watya, John M Gaziano, Amy C Justice, David V Conti, Christopher A Haiman

Faculty, Staff and Student Publications

Genome-wide polygenic risk scores (GW-PRSs) have been reported to have better predictive ability than PRSs based on genome-wide significance thresholds across numerous traits. We compared the predictive ability of several GW-PRS approaches to a recently developed PRS of 269 established prostate cancer-risk variants from multi-ancestry GWASs and fine-mapping studies (PRS269). GW-PRS models were trained with a large and diverse prostate cancer GWAS of 107,247 cases and 127,006 controls that we previously used to develop the multi-ancestry PRS269. Resulting models were independently tested in 1,586 cases and 1,047 controls of African ancestry from the California Uganda Study and 8,046 cases and …


Du Undergraduate Showcase: Research, Scholarship, And Creative Works, Caitlyn Aldersea, Justin Bravo, Sam Allen, Anna Block, Connor Block, Emma Buechler, Maria De Los Angeles Bustillos, Arianna Carlson, William Christensen, Olivia Kachulis, Noah Craver, Kate Dillon, Muskan Fatima, Angel Fernandes, Emma Finch, Colleen Cassidy, Amy Fishman, Andrea Francis, Stacia Fritz, Simran Gill, Emma Gries, Rylie Hansen, Shannon Powers, Jacqueline Martinez, Zachary Harker, Ashley Hasty, Mykaela Tanino-Springsteen, Kathleen Hopps, Adelaide Kerenick, Colin Kleckner, Ci Koehring, Elijah Kruger, Braden Krumholz, Maddie Leake, Lyneé Alves, Seraphina Loukas, Yatzari Lozano Vazquez, Haley Maki, Emily Martinez, Sierra Mckinney, Audrey Mitchell, Kipling Newman, Audrey Ng, Megan Lucyshyn, Andrew Nguyen, Stevie Ostman, Casandra Pearson, Alexandra Penney, Julia Gielczynski, Tyler Ball, Anna Rini, Christina Rorres, Simon Ruland, Helayna Schafer, Emma Sellers, Sarah Schuller, Claire Shaver, Kevin Summers, Isabella Shaw, Madison Sinar, Claudia Pena, Apshara Siwakoti, Carter Sorensen, Madi Sousa, Anna Sparling, Alexandra Revier, Brandon Thierry, Dylan Tyree, Maggie Williams, Lauren Wols May 2023

Du Undergraduate Showcase: Research, Scholarship, And Creative Works, Caitlyn Aldersea, Justin Bravo, Sam Allen, Anna Block, Connor Block, Emma Buechler, Maria De Los Angeles Bustillos, Arianna Carlson, William Christensen, Olivia Kachulis, Noah Craver, Kate Dillon, Muskan Fatima, Angel Fernandes, Emma Finch, Colleen Cassidy, Amy Fishman, Andrea Francis, Stacia Fritz, Simran Gill, Emma Gries, Rylie Hansen, Shannon Powers, Jacqueline Martinez, Zachary Harker, Ashley Hasty, Mykaela Tanino-Springsteen, Kathleen Hopps, Adelaide Kerenick, Colin Kleckner, Ci Koehring, Elijah Kruger, Braden Krumholz, Maddie Leake, Lyneé Alves, Seraphina Loukas, Yatzari Lozano Vazquez, Haley Maki, Emily Martinez, Sierra Mckinney, Audrey Mitchell, Kipling Newman, Audrey Ng, Megan Lucyshyn, Andrew Nguyen, Stevie Ostman, Casandra Pearson, Alexandra Penney, Julia Gielczynski, Tyler Ball, Anna Rini, Christina Rorres, Simon Ruland, Helayna Schafer, Emma Sellers, Sarah Schuller, Claire Shaver, Kevin Summers, Isabella Shaw, Madison Sinar, Claudia Pena, Apshara Siwakoti, Carter Sorensen, Madi Sousa, Anna Sparling, Alexandra Revier, Brandon Thierry, Dylan Tyree, Maggie Williams, Lauren Wols

DU Undergraduate Research Journal Archive

DU Undergraduate Showcase: Research, Scholarship, and Creative Works


The Ethics Of Governance Of Data Analytics In Healthcare, Andrew Harrington May 2023

The Ethics Of Governance Of Data Analytics In Healthcare, Andrew Harrington

Electronic Theses and Dissertations

Recent literature and studies on data governance usually focus on data ethics and governance from a specific country or industry, which has been mostly business, without considering the larger global impact that is affected. Data is a worldwide asset; thus, its implications and considerations should be viewed as such. Hence, this dissertation attempts to incorporate this view by weaving together topics in healthcare, such as the blending of finance and delivery, data governance at the micro and macro levels, data analytics in healthcare, ethics of AI and information management, and technology’s impact on end-of-life practices. Through highlighting these areas of …


Genetic Implications Of Language Acquisition, Marissa Renee Ciccarini May 2023

Genetic Implications Of Language Acquisition, Marissa Renee Ciccarini

Honors Scholar Theses

The argument about whether language acquisition is "nature" or "nurture" has been long debated. Linguists have concluded that it requires the two, but how much does language acquisition rely on nature? Children show the capacity to learn languages quickly and without much effort. While research suggests that infants absorb many visual and verbal cues in their environment, biological structures are the underlying component of how this knowledge is gathered and organized. The genetics that code for specific neurophysiological pathways affect how people interact with their environment and where information is stored, forming the basis for these biological structures. Genetic research …