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Node-Time Conditional Prompt Learning In Dynamic Graphs, Xingtong Yu, Zhenghao Liu, Xinming Zhang, Yuan Fang Apr 2025

Node-Time Conditional Prompt Learning In Dynamic Graphs, Xingtong Yu, Zhenghao Liu, Xinming Zhang, Yuan Fang

Research Collection School Of Computing and Information Systems

Dynamic graphs capture evolving interactions between entities, such as in social networks, online learning platforms, and crowdsourcing projects. For dynamic graph modeling, dynamic graph neural networks (DGNNs) have emerged as a mainstream technique. However, they are generally pre-trained on the link prediction task, leaving a significant gap from the objectives of downstream tasks such as node classification. To bridge the gap, prompt-based learning has gained traction on graphs, but most existing efforts focus on static graphs and neglect the evolution of dynamic graphs. In this paper, we propose DYGPROMPT, a novel pre-training and prompt learning framework for dynamic graph modeling. …


Bootstrapping Language Models With Dpo Implicit Rewards, Changyu Chen, Zichen Liu, Chao Du, Tianyu Pang, Qian Liu, Arunesh Sinha, Pradeep Varakantham, Min Lin Apr 2025

Bootstrapping Language Models With Dpo Implicit Rewards, Changyu Chen, Zichen Liu, Chao Du, Tianyu Pang, Qian Liu, Arunesh Sinha, Pradeep Varakantham, Min Lin

Research Collection School Of Computing and Information Systems

Human alignment in large language models (LLMs) is an active area of research. A recent groundbreaking work, direct preference optimization (DPO), has greatly simplified the process from past work in reinforcement learning from human feedback (RLHF) by bypassing the reward learning stage in RLHF. DPO, after training, provides an implicit reward model. In this work, we make a novel observation that this implicit reward model can by itself be used in a bootstrapping fashion to further align the LLM. Our approach is to use the rewards from a current LLM model to construct a preference dataset, which is then used …


On The Probability Of Necessity And Sufficiency Of Explaining Graph Neural Networks: A Lower Bound Optimization Approach, Ruichu Cai, Yuxuan Zhu, Xuexin Chen, Yuan Fang, Min Wu, Jie Qiao, Zhifeng Hao Apr 2025

On The Probability Of Necessity And Sufficiency Of Explaining Graph Neural Networks: A Lower Bound Optimization Approach, Ruichu Cai, Yuxuan Zhu, Xuexin Chen, Yuan Fang, Min Wu, Jie Qiao, Zhifeng Hao

Research Collection School Of Computing and Information Systems

The explainability of Graph Neural Networks (GNNs) is critical to various GNN applications, yet it remains a significant challenge. A convincing explanation should be both necessary and sufficient simultaneously. However, existing GNN explaining approaches focus on only one of the two aspects, necessity or sufficiency, or a heuristic trade-off between the two. Theoretically, the Probability of Necessity and Sufficiency (PNS) holds the potential to identify the most necessary and sufficient explanation since it can mathematically quantify the necessity and sufficiency of an explanation. Nevertheless, the difficulty of obtaining PNS due to non-monotonicity and the challenge of counterfactual estimation limit its …


Characterising Reproducibility Debt In Scientific Software: A Systematic Literature Review, Zara Hassan, Christoph Treude, Michael Norrish, Graham Williams, Alex Potanin Apr 2025

Characterising Reproducibility Debt In Scientific Software: A Systematic Literature Review, Zara Hassan, Christoph Treude, Michael Norrish, Graham Williams, Alex Potanin

Research Collection School Of Computing and Information Systems

Context: In scientific software, the inability to reproduce results is often due to technical issues and challenges in recreating the full computational workflow from the original analysis. We conceptualise this problem as Reproducibility Debt (RpD). Much research has been performed to propose solutions to tackle these issues across various computational science disciplines. It is essential to identify and accumulate existing knowledge on reproducibility issues and state-of-the-art solutions so as to provide researchers and practitioners with information that enables further research activities and RpD management in practice. Objective: In the context of scientific software, we aim to characterise RpD by providing …


Enmob: Unveil The Behavior With Multi-Flow Analysis Of Encrypted App Traffic, Mengmeng Ge, Ruitao Feng, Likun Liu, Xiangzhan Yu, Sachidananda Vinay, Xiaofei Xie, Yang Liu Apr 2025

Enmob: Unveil The Behavior With Multi-Flow Analysis Of Encrypted App Traffic, Mengmeng Ge, Ruitao Feng, Likun Liu, Xiangzhan Yu, Sachidananda Vinay, Xiaofei Xie, Yang Liu

Research Collection School Of Computing and Information Systems

In the contemporary digital landscape, mobile applications have become the predominant conduit for internet connectivity and daily tasks. Simultaneously, the advent of application encryption technology has safeguarded users’ privacy. However, this encryption, while fortifying privacy, introduces challenges to security by hindering the effective management of network applications within encrypted data streams. Conventional detection methods for encrypted application traffic, relying heavily on statistical metrics like payload, packet size, and distribution, are constrained to single traffic flows, often yielding results of limited specificity. To address this limitation, our paper introduces an innovative approach that elucidates the multi-flow nature of application behavior traffic …


Verification Of Bit-Flip Attacks Against Quantized Neural Networks, Yedi Zhang, Lei Huang, Pengfei Gao, Fu Song, Jun Sun, Jin Song Dong Apr 2025

Verification Of Bit-Flip Attacks Against Quantized Neural Networks, Yedi Zhang, Lei Huang, Pengfei Gao, Fu Song, Jun Sun, Jin Song Dong

Research Collection School Of Computing and Information Systems

In the rapidly evolving landscape of neural network security, the resilience of neural networks against bit-flip attacks (i.e., an attacker maliciously flips an extremely small amount of bits within its parameter storage memory system to induce harmful behavior), has emerged as a relevant area of research. Existing studies suggest that quantization may serve as a viable defense against such attacks. Recognizing the documented susceptibility of real-valued neural networks to such attacks and the comparative robustness of quantized neural networks (QNNs), in this work, we introduce BFAVerifier, the first verification framework designed to formally verify the absence of bit-flip attacks against …


The Interplay Between Endothelial Glycocalyx Maturity And Both The Toxicity And Intracellular Uptake Of Charged Nanoparticles, Claire A. Bridges, Lu Fu, Jonathan Yeow, Xiaojing Huang, Miriam Jackson, Rhiannon P. Kuchel, James D. Sterling, Shenda M. Baker, Megan S. Lord Apr 2025

The Interplay Between Endothelial Glycocalyx Maturity And Both The Toxicity And Intracellular Uptake Of Charged Nanoparticles, Claire A. Bridges, Lu Fu, Jonathan Yeow, Xiaojing Huang, Miriam Jackson, Rhiannon P. Kuchel, James D. Sterling, Shenda M. Baker, Megan S. Lord

Business and Information Technology Faculty Research & Creative Works

Nanoparticles are widely studied for delivering treatments to target tissues, but few have reached clinical use. Most nanoparticles encounter blood vessels on their way to target tissues. The inner surface of these vessels is lined with endothelial cells covered by a glycocalyx, an extracellular matrix rich in anionic glycans. The role of the glycocalyx in nanoparticle interactions is not well understood. Here, we demonstrate that endothelial cells need extended culture times to synthesize a mature glycocalyx. Our research shows that branched polyethyleneimine functionalized gold nanoparticles bind to endothelial cells expressing either a developing or mature glycocalyx, with the interaction involving …


Digital Transformation And The Future Of Work: Closing The Digital Skills Gap, Siu Loon Hoe Apr 2025

Digital Transformation And The Future Of Work: Closing The Digital Skills Gap, Siu Loon Hoe

Research Collection School Of Computing and Information Systems

The purpose of this article is to discuss the near future digital technology landscape and propose several specific in-demand digital skills for organizations and individuals in the next few years. This article reviews some recent publications from representative inter-governmental, governmental, non-governmental, and commercial organizations on the rise of digital technologies and corresponding growth in digital jobs. Within this context, several specific in-demand skills are proposed by the author who has written a book on the topic of digital transformation. Rapid advancements in digital technologies continue to shape organizational practices and the future of work. To take advantage of emerging digital …


Exploring Dynamic Extreme Dependence Of Oil And Agricultural Markets, Khalid M. Kisswani, Amine Lahiani, Mahelet G. Fikru Apr 2025

Exploring Dynamic Extreme Dependence Of Oil And Agricultural Markets, Khalid M. Kisswani, Amine Lahiani, Mahelet G. Fikru

Economics Faculty Research & Creative Works

This study examines the dynamic extreme dependence between oil markets and a set of non-exploited agricultural assets (Barley, coffee, maize, rice, sorghum, sugar, wheat) prices using 1990–2023 monthly prices data. Our time-varying copula models allow us to investigate nonlinear and asymmetric dependence between pairwise assets. We find evidence of positive exceedance correlation at small and medium quantiles/thresholds and negative exceedance correlation for quantiles higher than 0.6 for five out of seven food assets. Findings also indicate a tent-shaped quantile dependence for all food assets and demonstrate a time variation in the association path between oil and food asset returns. Important …


Inge Viermetz, Woman Acquitted At Nuremberg, Diane Marie Amann Apr 2025

Inge Viermetz, Woman Acquitted At Nuremberg, Diane Marie Amann

Scholarly Works

Conventional narratives tend to represent the post-World War II international criminal proceedings as a men’s project, thus obscuring the many women who participated, as lawyers, journalists, analysts, interpreters, witnesses, and defendants. Indeed, two women stood trial before Nuremberg Military Tribunals. This article examines the case of the only woman found not-guilty: Inge Viermetz, who had been an administrator at Lebensborn, the Nazi SS adoption and placement agency. The article outlines the prosecution’s child-taking case against Viermetz, as well as her successful gendered self-portrayal as a conventionally feminine caregiver. With references to Professor Megan A. Fairlie, at whose memorial symposium it …


Sustainability In The United Arab Emirates Secondary Schools: A Policy Practice Analysis, Sandra Baroudi, Hounaida Abi Haidar Apr 2025

Sustainability In The United Arab Emirates Secondary Schools: A Policy Practice Analysis, Sandra Baroudi, Hounaida Abi Haidar

All Works

The integration of sustainability in education has gained global attention as a critical component of achieving the United Nations Sustainable Development Goals (SDGs). Within the United Arab Emirates (UAE), significant efforts have been made to incorporate sustainability into national policies, reflecting the country’s vision for sustainable economic, social and environmental development. Within the context of Education for Sustainable Development (ESD), this research aims to investigate the alignment between national sustainability policies and their practical implementation in secondary schools, with a focus on identifying barriers and proposing actionable recommendations to enhance the integration of sustainability into education. This study employs a …


Ucc Minutes 4-1-25, Angela Brock Apr 2025

Ucc Minutes 4-1-25, Angela Brock

UCC Agendas/Minutes

No abstract provided.


To What Extent Do Dual Language Teachers In Washington State Perceive They Have What They Need To Be Effective Teachers In Their Dual Language Classrooms?, Karin E. Wieland Apr 2025

To What Extent Do Dual Language Teachers In Washington State Perceive They Have What They Need To Be Effective Teachers In Their Dual Language Classrooms?, Karin E. Wieland

Education Dissertations

Washington state has announced the plan for a statewide implementation of dual language programs by 2040, which would make Washington the first state in the United States to offer students a dual language opportunity in every school district. The need for more dual language programs is supported by the numerous benefits they have shown to offer. Among these benefits are academic, social, economic, and cognitive advantages. Despite these well-documented benefits, research shows that teachers who work with bilingual students often face unique challenges and lack what they need to be effective teachers in their dual language classrooms. The purpose of …


Chiral Collapse In William Gaddis’ The Recognitions, Drake Roth , '25 Apr 2025

Chiral Collapse In William Gaddis’ The Recognitions, Drake Roth , '25

Senior Theses, Projects, and Awards

What is the purpose of art? What is the relationship between such complex binaries as: art and science, art and artist, music and musician? How do forgeries or fraudulent creativity complicate such relationships? And how (mechanistically) does art allow for a more holistic understanding of self and imagination? This thesis attempts answers chiefly using William Gaddis' The Recognitions, a gargantuan post-modernist American fiction novel published in 1955. By underpinning his book with themes of hands, binaries, and mechanized art Gaddis proffers an apparatus for understanding the relationships between opposing forces. Carl Jung’s theory of enantiodromia, or the process …


The Lived Experience Of Acute Stroke Advanced Practice Registered Nurses (Aprn) Working In Expanded Roles: A Mixed Methods Study, Terri-Ellen Kiernan Apr 2025

The Lived Experience Of Acute Stroke Advanced Practice Registered Nurses (Aprn) Working In Expanded Roles: A Mixed Methods Study, Terri-Ellen Kiernan

Theses and Dissertations (ETD)

Introduction. Nurse practitioners have made credible gains through the six decades since inception to cover the growing need for outpatient family care. Nurse practitioners are now working in all aspects of medicine by continuing to fill gaps with healthcare needs that persist due to physician shortages. Stroke neurology is a medical specialty plagued by a shortage of physician specialists in hospital acute care which can limit acute stroke diagnosis and treatment capabilities. Stroke nurse practitioners (SNP) are vascular neurology trained specialists who fill relatively new hospital roles to assume traditionally physician-based responsibilities in an expanded role. This study aims to …


Law In Bloom: The Roots Of Legal Consciousness And Negotiation In Philadelphia Community Gardens, Vanessa Amsinger , '25 Apr 2025

Law In Bloom: The Roots Of Legal Consciousness And Negotiation In Philadelphia Community Gardens, Vanessa Amsinger , '25

Senior Theses, Projects, and Awards

This thesis examines how legal consciousness, self-governance, and social networks shape power, participation, and belonging in the Southwark Queen Village Community Garden in South Philadelphia, Pennsylvania. I draw on theories of legal pluralism and network theory to analyze archival documents, participant observation, and semi-structured interviews with garden members and leadership. I show that gardeners navigate overlapping formal rules and informal hierarchies, appearing in the form of bylaws, land trust agreements, social ties, and embodied practices, that together produce a complex web of legal consciousness inside the space. Mechanisms of self-governance, like plot assignments and leadership elections, often reinforce social hierarchies …


Disease And Deprivation: Care, Medical Pluralism, And Healthcare Experiences Of Diabetes Patients In Liberia, Prince U.D. Tardeh , '25 Apr 2025

Disease And Deprivation: Care, Medical Pluralism, And Healthcare Experiences Of Diabetes Patients In Liberia, Prince U.D. Tardeh , '25

Senior Theses, Projects, and Awards

Equal access to healthcare continues to be a problem across the globe, with people from colonized nations suffering at an even higher rate. Infrastructures and healthcare resources’ limitations in developing nations like Liberia continue to limit how much care citizens, especially low income people can receive for their illnesses. This thesis combines ethnographic fieldwork, history, and quantitative data analysis to describe the issues of access to healthcare in Liberia and the circumstances that have shaped Liberia’s inability to provide adequate care for its citizens. The analysis in this thesis is rooted in weeks long in-depth interviews with healthcare professionals, herbalists, …


Exploitation On The High Seas: Transnational Capital And Workers Rights In The Global Cruise Industry, Kyle A. White , '25 Apr 2025

Exploitation On The High Seas: Transnational Capital And Workers Rights In The Global Cruise Industry, Kyle A. White , '25

Senior Theses, Projects, and Awards

No abstract provided.


Sculpting A Program On Unsteady Ground: Tensions, Issues, And Possibilities In Theimplementation Of Spanish-English Dual Language Immersion In Georgia, Andrés Villalba , '25 Apr 2025

Sculpting A Program On Unsteady Ground: Tensions, Issues, And Possibilities In Theimplementation Of Spanish-English Dual Language Immersion In Georgia, Andrés Villalba , '25

Senior Theses, Projects, and Awards

No abstract provided.


The Experiences Of Disabled People In Physical Education, Wesley J. Wilson (Editor), Justin A. Haegele (Editor) Apr 2025

The Experiences Of Disabled People In Physical Education, Wesley J. Wilson (Editor), Justin A. Haegele (Editor)

Human Movement Studies & Special Education Faculty Books

Bringing together a set of first- person accounts of physical education from the perspectives of disabled children and adults, this book puts disabled people’s voices in the foreground.

The book provides a rich set of case study material that deepens our understanding of the experiences of disabled people and challenges students, researchers, and practitioners to reflect critically upon their own positionality. The first part of the book discusses the ways in which disability has been conceptualized, how the voices of disabled people have sometimes been marginalized, and how nondisability power has historically framed the narratives of disabled people in physical …


The Transition Process Of Syrian Refugee Families Separated By U.S. Immigration Law, Firas Aljijakli Apr 2025

The Transition Process Of Syrian Refugee Families Separated By U.S. Immigration Law, Firas Aljijakli

Graduate Theses, Dissertations, and Capstones

Refugees are regarded as one of the most pressing humanitarian issues worldwide due to intricate social, economic, and demographic factors. Changes in U.S. immigration policy across successive administrations, particularly regarding the refugee ban and the duration of the resettlement process, have significantly impacted admission procedures. Consequently, family separations occur during the resettlement process, compelling families to navigate immigration policies while managing the challenges of being apart. This separation from their children greatly affects refugees’ ability to integrate into American society.

The research examines how Syrian refugee families cope with the separation resulting from U. S. immigration law. An important lens …


Rising From The Ashes : How African American Women From North Tulsa Overcame The Oppressions Of Race, Gender, And Class And Achieved Success, Cynthia A. Talley Apr 2025

Rising From The Ashes : How African American Women From North Tulsa Overcame The Oppressions Of Race, Gender, And Class And Achieved Success, Cynthia A. Talley

ATS Dissertations

No abstract provided.


Validation Of Digirop- Birth And Digirop- Screen For The Discovery Of Retinopathy Of Prematurity Requiring Treatment In Preterm Births In Saudi Arabia, Huda K. Ahmedhussain, Lina H. Raffa, Amal M. Alosaimif, Sarah K. Alessa, Suzan Y. Alharbi, Hashem Almarzouki, Mansour A. Alqurashi Apr 2025

Validation Of Digirop- Birth And Digirop- Screen For The Discovery Of Retinopathy Of Prematurity Requiring Treatment In Preterm Births In Saudi Arabia, Huda K. Ahmedhussain, Lina H. Raffa, Amal M. Alosaimif, Sarah K. Alessa, Suzan Y. Alharbi, Hashem Almarzouki, Mansour A. Alqurashi

Saudi Medical Journal

ABSTRACT Objectives: To validate 2 DIGIROP prediction models for retinopathy of prematurity (ROP) type 1 and compare them to other weight-based algorithms in a premature Saudi Arabian infant cohort. Methods: Preterm infants of 24-30 weeks’ gestational age (GA) or body weight (BW) of ≤1500g who were admitted to the neonatal units of 2 Jeddah tertiary centers between January 2015 and September 2021 were included (N=363). The DIGIROP-Birth employed the birth GA, gender, birth weight, and age at ROP onset as predictors. The area under the receiver operating characteristic curve (AUC) with 95% confidence interval, specificity, and sensitivity were projected. The …


Hbv Transmission Knowledge Among Korean-American Chronic Hepatitis B Patients In The United States, Giyoung Lee, Hee-Soon Juon, Eunji Kim, Katherine C Smith, Hie-Won Hann, Mimi Chang, Ann C. Klassen Apr 2025

Hbv Transmission Knowledge Among Korean-American Chronic Hepatitis B Patients In The United States, Giyoung Lee, Hee-Soon Juon, Eunji Kim, Katherine C Smith, Hie-Won Hann, Mimi Chang, Ann C. Klassen

Division of Gastroenterology and Hepatology Faculty Papers

Chronic hepatitis B (CHB) is a condition that disproportionately affects Asian Americans in the United States. Knowledge of transmission is crucial for CHB patients to practice prevention methods to limit the spread of the hepatitis B virus (HBV), but also live their lives free from unwarranted fears or restrictions. Among Asian CHB patients, several misperceptions about HBV transmission have been identified. This analysis aims to assess the current state of HBV knowledge among a cohort of Korean-American CHB patients. This mixed-methods study includes 363 respondents who completed a survey in either Korean (N = 298) or English (N = 65) …


Valuing Worker Authenticity, Dallan F. Flake Apr 2025

Valuing Worker Authenticity, Dallan F. Flake

William & Mary Law Review

Title VII of the Civil Rights Act of 1964 protects workers from discrimination because of their race, color, religion, sex, or national origin. Controversially, courts do not typically extend this protection to individual expression tied to a protected trait, such as a Black employee who wears their hair in dreadlocks or a Latino employee who speaks Spanish on the job. Judicial unwillingness to protect employee self-expression tied to a protected trait causes employees who identify with marginalized groups to suppress their identities to conform with mainstream culture—often at tremendous costs to themselves and the organizations they work for.

This Article …


Evidence-Based Practices And Us State Government Civil Servants: Current Use, Challenges, And Pathways Forward, Yuan (Daniel) Cheng, Leslie Thompson, Shuping Wang, Jules Marzec, Chengxin Xu, Weston Merrick, Patrick Carter Apr 2025

Evidence-Based Practices And Us State Government Civil Servants: Current Use, Challenges, And Pathways Forward, Yuan (Daniel) Cheng, Leslie Thompson, Shuping Wang, Jules Marzec, Chengxin Xu, Weston Merrick, Patrick Carter

Center for Policy Design and Governance

This brief summarizes "Evidence-based practices and US state government civil servants: Current use, challenges, and pathways forward," co-authored by Yuan (Daniel) Cheng, Leslie Thompson, Shuping Wang, Jules Marzec, Chengxin Xu, Weston Merrick, and Patrick Carter in Public Administration Review.


Mane Pulling And Stress Response: Investigating The Welfare Impact Of An Equine Husbandry Practice, Rowan Grzeszkiewicz-O’Neill Apr 2025

Mane Pulling And Stress Response: Investigating The Welfare Impact Of An Equine Husbandry Practice, Rowan Grzeszkiewicz-O’Neill

Inquiry Journal Spring 2025

This study assessed stress response in horses during mane pulling, a practice that involves using a metal comb to tear out hairs in order to create an even and thin mane for horse showing. Seven horses from the UNH equine program were tested under three conditions: the experimental condition, during which they had their manes pulled; the baseline condition, in which they were not handled during testing; and the control condition, where the horse’s manes were brushed using a hairbrush. I collected data on heart rate, how frequently horses showed certain behaviors, and the temperature of a structure of the …


Tales Of The Seres And Silk: Roman Perceptions Of The Far East And Silk Within The Empire, Karter Mingze Hanley Apr 2025

Tales Of The Seres And Silk: Roman Perceptions Of The Far East And Silk Within The Empire, Karter Mingze Hanley

Inquiry Journal Spring 2025

Research into the social, economic, and political impacts of the Silk Road, a former network of international trade routes linking the Roman and Chinese empires, has proliferated since the late nineteenth century. However, there is no comprehensive, modern examination of Roman portrayals of the Seres, the people producing silk in the east, or attitudes towards silk in Roman society. To examine these two topics, I worked closely with seven passages discussing the Seres or silk. These passages, all coming from different Roman authors, spanned diverse ancient genres and various timeframes from the first century BCE to the fourth century CE …


Vervet Monkey Orphans Raised Via Surrogacy And How Their Behaviors Differ From Those Of Vervet Monkeys Born And Raised Biologically, Morgan Breen Apr 2025

Vervet Monkey Orphans Raised Via Surrogacy And How Their Behaviors Differ From Those Of Vervet Monkeys Born And Raised Biologically, Morgan Breen

Inquiry Journal Spring 2025

Increasingly higher rates of orphan Vervet Monkeys (Chlorocebus pygerythrus) are ending up in rehabilitation centers all over Africa. This species is viewed as a pest and is often hunted or killed by humans, however, they play a vital role in their ecosystem. They also have extremely complex social hierarchies, living in large matriarchal troops which makes them difficult to rehabilitate. Through the use of surrogate mothers, orphans can learn survival skills and be reared without relying solely on human care. This study aims to assess how to provide these orphaned monkeys with the best chance of survival once released by …


Frequency Of Variants In Mendelian Alzheimer’S Disease Genes Within The Alzheimer’S Disease Sequencing Project, Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage, Eric Boerwinkle, Philip L De Jager, Ellen Wijsman, Josée Dupuis, Alan E Renton, Sudha Seshadri, Alison M Goate, Alzheimer's Disease Neuroimaging Initiative (Adni), The Alzheimer's Disease Sequencing Project, Anita L Destefano, Gina M Peloso Apr 2025

Frequency Of Variants In Mendelian Alzheimer’S Disease Genes Within The Alzheimer’S Disease Sequencing Project, Dongyu Wang, Alexandra Scalici, Yanbing Wang, Honghuang Lin, Achilleas Pitsillides, Nancy Heard-Costa, Carlos Cruchaga, Ellen Ziegemeier, Joshua C Bis, Myriam Fornage, Eric Boerwinkle, Philip L De Jager, Ellen Wijsman, Josée Dupuis, Alan E Renton, Sudha Seshadri, Alison M Goate, Alzheimer's Disease Neuroimaging Initiative (Adni), The Alzheimer's Disease Sequencing Project, Anita L Destefano, Gina M Peloso

Faculty, Staff and Student Publications

Background:

Prior studies examined variants within presenilin-2 (PSEN2), presenilin-1 (PSEN1), and amyloid precursor protein (APP) genes. However, previously-reported clinically-relevant variants and other predicted damaging missense (DM) variants have not been characterized in a newer release of the Alzheimer’s Disease Sequencing Project (ADSP).

Objective:

To characterize previously-reported clinically-relevant variants and DM variants in PSEN2, PSEN1, APP within the participants from the ADSP.

Methods:

We identified rare variants (MAF< 1%) in PSEN2, PSEN1, and APP in 14,641 individuals with whole genome sequencing and 16,849 individuals with whole exome sequencing available (Ntotal = 31,490). We additionally curated …