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Histopathologic Changes And Molecular Characterization Of Fascioliasis (A Zoonotic Disease) Among Slaughtered Livestock In Erbil And Halabja Abattoirs, Kurdistan Region-Iraq, Qaraman Mamakhidr Koyee, Rozhgar Abdullah Khailany, Mahmud Luqman Rahman, Liza Numan Nassraldin

Baghdad Science Journal

Fascioliasis is a zoonotic disease, caused by the parasites Fasciola (F.) hepatica and F. gigantica, which poses a great threat to the ruminants in addition to humans in many countries, including Iraq. Hence, the study of this parasite and its deleterious impacts on host, morphologically, histopathologically, epidemiologically, and molecularly, is so important. Hence, the current study was designed to investigate this fluke of livestock in Erbil and Halabja slaughterhouses from August to October 2022. To meet the prerequisites of the study, 33 flukes were collected from the sheep and cattle at study sites. The samples were transported to the Zoology …

Semi-Analytical Solutions For Time-Fractional Fisher Equations Via New Iterative Method, Shivaji Ashok Tarate Tarate, A. P. Bhadane, S.B. Gaikwad, K.A. Kshirsagar

Baghdad Science Journal

An effective method for resolving non-linear partial differential equations with fractional derivatives is the New Sumudu Transform Iterative Method (NSTIM). It excels at solving difficult mathematical puzzles and offers insightful information about the behaviour of time-fractional Fisher equations. The method, which makes use of Caputo's sense derivatives and Wolfram in Mathematica, is reliable, simple to use, and gives a visual depiction of the solution. The analytical findings demonstrate that the proposed approach is effective and simple in generating precise solutions for the time-fractional Fisher equations. The results are made more reliable and applicable by including Caputo's sense derivatives. Mathematical modelling …

Understanding The Effect Of Environment- And Organization-Specific Factors On Sustained Crowdsourcing Contest Participation, Hanieh Javadi Khasraghi, Xuan Wang, Yaojie Li, Yi Liu

Management and Marketing Faculty Publications

Crowdsourcing contests have increasingly become a recognized sourcing mechanism for problem-solving and decision-making in organizations. The continued participation in crowdsourcing contests undoubtedly determines the success of the crowdsourcing platform. While previous studies have investigated a myriad of factors influencing individuals’ sustained participation in crowdsourcing contests, environment- and organization-specific factors have yet received little attention from researchers. The purpose of this paper is to fill this research gap by investigating how team ties, organization exposure, and experience with the organization can affect sustained participation in crowdsourcing contests. We conducted an empirical study using rich data set of 9,596 Individuals in 138 …

Sexual Quality Of Life In Sexual And Gender Minority Women After Cancer, Heather Schneider Miles

Theses and Dissertations

Sexual quality of life (SQoL) is a critical aspect of well-being, encompassing physical, emotional, and social dimensions. For sexual and gender minority women (SGMW)—lesbian, bisexual, transgender, or queer—cancer presents unique challenges. This dissertation examined the relationships between cancer treatment symptoms, social support, and communication with the cancer care team (CCT) on SQoL among SGMW survivors of breast, gynecological, and colorectal cancers. Quantitative data from 37 participants were collected using PROMIS® measures, assessing demographics, treatment history, post-treatment symptoms, perceived social support, and communication with the CCT. Additionally, in-depth interviews with five participants provided qualitative insights into their experiences and the meaning …

Understanding Cancer Grade And Survival Disparities Among Young Adults Diagnosed With Non-Hodgkin’S Lymphoma (Nhl) Residing In South Carolina, Prema S. Bhattacharjee

Theses and Dissertations

Introduction. Previous research has shown that age and cancer grade differences must be carefully considered when developing initiatives to improve outcomes for NHL among the young adult population. The aims of this study are 1) to examine differences between low vs. high grade in NHL by race/ethnicity, healthcare insurance, and geographic factors among YAs aged 18-39 years of age in South Carolina, 2) to examine delays in the first course of cancer treatment for NHL by race/ethnicity, healthcare insurance, and county of residence (urban vs. rural) among YAs aged 18-39 years of age in South Carolina, and 3) examine differences …

Optimization Of A Nanotechnology-Based System For The Treatment Of Electroplating Wastewater, Madeleine Mary Meyer

Theses and Dissertations

To protect humans and the environment, human actions that may expose living organisms to toxic metals are heavily regulated in developed countries. The use and production of toxicants in commercial applications is tightly controlled in the United States of America by federal and state laws. Due to this fact, United States manufacturing companies are required to control the amount of regulated toxicants that leave their facilities. Toxic metals in wastewater are heavily regulated by federal and state law, with manufacturing facilities permitted individually for the concentrations of metals they are allowed to discharge via their wastewater. From previous research conducted …

Investigating The Mediating Effect Of Social Support In Team Sport Participation On Adolescent Mental Health Outcomes, Olivia Schmitke

Theses and Dissertations

Peer and non-familial adult supportive relationships are a critical part of healthy adolescent development, positively influencing psychological, behavioral, and social domains (e.g., Panza et. al., 2020). Extracurricular sports activities are a source of peer (e.g., teammates) and adult (e.g., coaches) relationships and are associated with favorable impacts on mental health which may be an impactful protective factor given the rise of mental health crisis in youth today. The present study aimed to clarify the relationship mechanisms underlying the benefits of sports participation by examining and effecting social support has on mental health outcomes in adolescents engaged in sports. In doing …

Using Youth Participatory Action Research To Scale Up Pre-Exposure Prophylaxis (Prep) In The Southern United States, Mariajose Jhamira Paton

Theses and Dissertations

The recently launched initiative, Ending the HIV Epidemic (EHE), provides a targeted plan to end HIV in the United States (US) by 2030, and prioritizes key demographic groups and geographic areas that are disproportionately burdened by HIV. Sexual and gender minority (SGM) youth, especially Black and Latiné youth (SGMBLY), are a key population for EHE as they have experienced the largest increase in new HIV rates in recent decades. States identified by EHE are disproportionately located in the Southern US, where increasing the uptake of pre-exposure prophylaxis (PrEP) for HIV has been a challenge. Though proven effective, youth participatory action …

Surface Acoustic Waves-Based Point-Of-Care Biosensor, Debdyuti Mandal

Theses and Dissertations

A biosensor is an analytical tool consisting of biologically active material used in close conjunction with a device that converts a biochemical signal into a quantifiable electrical signal. The early detection of the disease biomarkers can enhance the increased curability of the disease, reduce healthcare costs, and finally, improve the quality of life for patients. Thus, for the following purpose, there is always a need for an effective biosensor as a diagnostic device. The biosensor typically consists of an actuator, a bio-recognition component, and a transducer that converts captured signals into a meaningful display. The bio-recognition component uses biomolecules to …

Altered Sensory Processing And Pain In Youth With Sickle Cell Disease: Risk Factors And Moderators, Julia Johnston

Theses and Dissertations

Introduction: Youth with sickle cell disease (SCD) experience recurrent pain and increased risk for chronic pain. Neuropathic pain, characterized by alterations to the central and/or peripheral nervous systems, is not well understood among youth with SCD. Based on our current understanding of pain systems and existing literature on pain in SCD, this study aimed to elucidate psychosocial correlates of altered sensory processing (ASP) and neuropathic pain, determine biomedical risk factors contributing to the development of ASP among youth with SCD, and identify how sensory processing and biopsychosocial factors collectively influence pain experiences by assessing two plausible models. Methods: Thirty-five youth …

Understanding Stressors, Coping Strategies, And Physical Activity Among African American Women Using Ecological Momentary Assessment, Asia Brown

Theses and Dissertations

Psychological stress is a normal part of the human experience and can be adaptive in certain contexts. However, chronic, cumulative, or uncontrollable stressors, such as those associated with living in poverty or being a member of a marginalized group, contribute to pervasive inequities among African American women including lower rates of physical activity. Given the social and political forces that continue to shape inequities, and which have exacerbated Covid-19’s impact on African Americans, it is important to gain a better understanding of how this population is experiencing and coping with current stressors, many of which are embedded within the social …

Decisions, Decisions: Dna Damage Induced Modification Of P53 And The Effect Of Modifications On P53 Differential Binding To The Dna, Savannah Gabrielle Keating

Theses and Dissertations

p53 is the most frequently mutated tumor suppressor protein in cancer. It is highly regulated, most often via post-translational modifications (PTMs). Different pathways and target genes are differentially activated by p53 and there is much left to understand how this occurs. The regulation of p53 at the post-translational level is incredibly important to its DNA damage response, and, therefore, it is understood that PTMs are often involved in the differential activation of pathways by p53. This project aimed to identify some of the types and locations of post-translational modifications on p53 in response to different modes of DNA damage with …

Enabling Novel Nanopore Sensing Approaches For Personalized Medicine Through Chemical Modifications To Analytes, Zehui Zhang

Theses and Dissertations

Nanopore sensors have garnered significant attention recently, not only for their groundbreaking advancements in single-molecule DNA sequencing but also for their diverse applications in stochastic sensing, single-molecule chemistry, and protein unfolding. The interaction of single molecules with the nanopore sensing interface leads to characteristic ionic current modulations, reflecting the composition, charge, distribution, structure, and sequence of the translocating molecule. With the electrical resistive pulse nanopore sensing, its single-molecule sensitivity and specificity have opened doors to numerous potential applications in personalized medicine. I will discuss recent advancements in the sensitivity and specificity of personalized medicine using nanopore sensors, focusing on proteomic …

Evaluation Of Mechanism Of Action And Toxicity Of Novel Psychoactive Substances (Nps) Identified As Cannabinomimetics, Robert Michael Sears

Theses and Dissertations

Synthetic cannabinoid receptor agonists (SCRA), also referred to as synthetic cannabinoids (SCs), pose a significant public health risk, create an undue burden on local emergency departments, and present significant challenges for law enforcement officers and forensic laboratories. SCs are a diverse group of compounds sold with the intent to illicit psychoactive responses like tetrahydrocannabinol (THC), the primary psychoactive component in marijuana. Since their initial detection in 2004, illicit use of SCs has grown in popularity. Recognizing the dangers of SC use, the Drug Enforcement Agency has moved to schedule the analytes routinely identified in street drugs. Despite these efforts, the …

Accessory Eyes And Dynamic Color Change In Palaemon Vulgaris, Nicholas Raymond Steichmann

Theses and Dissertations

Eyes are physiologically costly organs to produce and maintain, making the development of secondary eyes intriguing. Caridean shrimp possess reflecting superposition primary eyes, but some species across fourteen families possess an additional pair of eyes called accessory eyes along the dorso-posterior margin of the primary eyes. Secondary eyes are found in lizards, lampreys, and insects, where they often function as illumination detectors. Some shrimps may use accessory eyes to signal endocrine organs in their eyestalks to alter the pigmentation of their carapace providing better camouflage through disruptive coloration. To investigate the role of accessory eyes in dynamic color change we …

Chemical Analysis Of Flotsam Ambergris, Steven J. Rowland, Paul A. Sutton, C. Anthony Lewis, Timothy Knowles, Michael J. Wilde, Filipe Alves, Robert Clough

School of Geography, Earth and Environmental Sciences

The natural product ambergris is only found rarely on beaches, as jetsam. Even more scarce, or even absent, are accounts of flotsam ambergris. Here, we report the chemical analysis of a rare, large piece (>100kg) of flotsam found in the Atlantic in 2019. About 95% of subsamples from the outside of the coprolith was soluble in dichloromethane. Of this, FTIR spectroscopy, APCI-MS and GC-MS indicated the presence of ambrein. Radiocarbon dating indicated that the sample was post 1950s in age. The ¹³C/¹²C isotope ratio (−22.5 ‰) was typical of those reported to date for whale ‘body’ …

Croning Academics: Menopause Matters In Higher Education, Marie Lavelle, Joanna Haynes, Emma Macleod-Johnstone

School of Law, Humanities and Social Sciences

This writing is born out of our experiences of becoming older women, academy hags, facing the performative demands of the neoliberalising patriarchal university. We are raging. With the figure of the Crone, and feminist-killjoy-croning as our creative and livid research method (Ahmed, 2023), we squeeze time out/with impossible university spaces and schedules to tend to grey matters. The paper traces the normalisation of menopause policies in workplaces and universities, following the social trending and capitalisation of menopausal and ageing matters. We question what menopause policies do and argue they constitute a failed project for the advancement of gender equality and …

Experimental Investigation Of The Self-Healing Potential Of Bacteria For Sustainable Concrete Structures Phase 2, Andrea Calabrese, Pitiporn Asvapathanagul, Nisarg N. Patel, Nanubala Dhruvan, Austin Adams, Michael Hernandez, Douglas S. Lopez-Cruz

Mineta Transportation Institute

Concrete is a critical component of so much of the modern construction industry. This material, well known for its versatility, robustness, longevity, and strength, is well-suited for a wide range of structural applications. Nonetheless, the widespread occurrence of cracks in concrete structures, primarily attributed to its limited tensile strength, shrinkage, and overstain, imposes a considerable economic and environmental challenge when it comes to retrofitting these fissures. This study tackles this problem by harnessing bacteria tolerant to high alkaline conditions to enable Microbially Induced Calcium Carbonate Precipitation (MICP) for the self-repair of concrete. This is achieved through an external application method, …

University Of San Diego Magazine 75th Anniversary 2024, University Of San Diego

University of San Diego Magazine (1992- )

Forging Community; Celebrating Impact; Aesthetic Aspirations; From Grassroots to the Vatican; Lighting the Way Forward; Decade of Discovery; The Stories Within; Those at Our Core; Aiming for Excellence; Twice as Nice; A Simple Yet Grand Vision

Childhood Maltreatment And Amygdala-Mediated Anxiety And Posttraumatic Stress Following Adult Trauma, Farah Harb, Michael T. Liuzzi, Ashley A. Huggins, E. Kate Webb, Jacklynn M. Fitzgerald, Jessica L. Krukowski, Terri A. Deroon-Cassini, Christine L. Larson

Psychology Faculty Research and Publications

Background

Childhood abuse (physical, emotional, and sexual) is associated with aberrant connectivity of the amygdala, a key threat-processing region. Heightened amygdala activity also predicts adult anxiety and posttraumatic stress disorder (PTSD) symptoms, as do experiences of childhood abuse. The current study explored whether amygdala resting-state functional connectivity may explain the relationship between childhood abuse and anxiety and PTSD symptoms following trauma exposure in adults.

Methods

Two weeks posttrauma, adult trauma survivors (n = 152, mean age [SD] = 32.61 [10.35] years; women = 57.2%) completed the Childhood Trauma Questionnaire and underwent resting-state functional magnetic resonance imaging. PTSD and anxiety …

Simulation Of A Single Photon Counting Photonic Spectrograph For Direct Imaging Of Exoplanet Atmospheres With The Habitable Worlds Observatory, Edwin Alexani

Theses

NASA’s highest-priority future flagship astrophysics mission is a large infrared/optical/ultraviolet (IR/O/UV) telescope, the first in a series of new Great Observatories recommended by the 2020 Decadal Survey. The current concept for this telescope is the Habitable Worlds Observatory (HWO), drawing on past design projects such as LUVOIR and HabEx. A key goal for HWO is to identify habitable exoplanets. The HWO will obtain spectra and direct images of distant, dim worlds, necessitating highly sensitive instruments. The HWO will require a coronagraph that achieves a 10^−10 contrast ratio to suppress the starlight and reveal terrestrial exoplanets. The detector’s dark current and …

Microkarta: Visualising Microservice Architectures, Oscar Manglaras, Alex Farkas, Peter Fule, Christoph Treude, Markus Wagner

Research Collection School Of Computing and Information Systems

Conceptualising and debugging a microservice architecture can be a challenge for developers due to the complex topology of inter-service communication, which may only apparent when viewing the architecture as a whole. In this paper, we present MicroKarta, a dashboard containing three types of network diagram that visualise complex microservice architectures, and that are designed to address problems faced by developers of these architectures. Initial feedback from industry developers has been positive. This dashboard can be used by developers to explore and debug microservice architectures, and can be used to compare the effectiveness of different types of network visualisation for assisting …

Fedstem-Adl: A Federated Spatial-Temporal Episodic Memory Model For Adl Prediction, Doudou Wu, Shubham Pateria, Budhitama Subagdja, Ah-Hwee Tan

Research Collection School Of Computing and Information Systems

Learning of Activities of Daily Living (ADLs) provides insights into an individual’s habits, lifestyle, and well-being. However, it is crucial to address data privacy concerns in practical situations when learning the ADL routines of individuals. In this paper, we introduce FedSTEM-ADL, a federated spatial-temporal episodic memory model to address this privacy issue. FedSTEM-ADL utilizes a federation of Spatial-Temporal Episodic Memory for ADLs (STEM-ADL) for federated learning, wherein multiple local STEM-ADL models from individual users are combined into a global model while preserving the privacy of the original data. Specifically, each local model is designed to learn the spatio-temporal ADL routines …

Drosophila Nhe2 Overexpression Induces Autophagic Cell Death, Jobelle Peralta, Blake Dupriest, Daniel Orozco, Juan Reyna Pacheco, Laura Martins, Rachel Ann Soriano, Alan Wong, Ramy Wong, Bree Grillo-Hill

Faculty Research, Scholarly, and Creative Activity

Autophagy is a conserved catabolic process where double membrane-bound structures form around macromolecules or organelles targeted for degradation. Autophagosomes fuse with lysosomes to facilitate degradation and macromolecule recycling for homeostasis or growth in a cell autonomous manner. In cancer cells, autophagy is often up-regulated and helps cancer cells survive nutrient deprivation and stressful growth conditions. Here, we propose that the increased intracellular pH (pHi) common to cancer cells is sufficient to induce autophagic cell death. We previously developed tools to increase pHi in the Drosophila eye via overexpression of DNhe2, resulting in aberrant patterning and reduced tissue size. We examined …

Cash, Crowds, And Cooperation: The Effects Of Population Density And Resource Scarcity On Cooperation In The Dictator Game, Tan Kai Lin, Lynn, Norman P. Li, Kenneth Tan

Research Collection School of Social Sciences

The adaptive benefits of cooperation among humans have been widely studied. However, is being cooperative always adaptive across various combinations of ecological conditions? Existing work has focused on cultural, inter-, and intra-individual predictors of cooperation yet there is a lack of research on how an individual's ecology may come into play. In this work, we focus on the interaction of two ecological factors—population density and resource scarcity—on cooperation. Population density is often accompanied by social competition for limited resources. We hypothesise that in response to cues of high (versus low) population density, people facing resource-scarcity would adaptively lower their cooperativeness, …

Pregnancy Outcomes Of Nifedipine Compared With Labetalol For Oral Treatment Of Mild Chronic Hypertension, Ayodeji A Sanusi, Justin Leach, Kim Boggess, Lorraine Dugoff, Baha Sibai, Kirsten Lawrence, Brenna L Hughes, Joseph Bell, Kjersti Aagaard, Rodney K Edwards, Kelly S Gibson, David M Haas, Lauren Plante, Torri D Metz, Brian Casey, Sean Esplin, Sherri Longo, Matthew K Hoffman, George R Saade, Kara K Hoppe, Janelle Foroutan, Methodius Tuuli, Michelle Y Owens, Hyagriv N Simhan, Heather Frey, Todd Rosen, Anna Palatnik, Susan Baker, Phyllis August, Uma M Reddy, Emily J Su, Iris Krishna, Nguyet A Nguyen, Mary E Norton, Daniel Skupski, Yasser Y El-Sayed, Dotun Ogunyemi, Zorina S Galis, Lorie Harper, Namasivayam Ambalavanan, Nancy L Geller, Hui-Chien Kuo, Rachel G Sinkey, Ronald Librizzi, Leonardo Pereira, Everett F Magann, Mounira Habli, Shauna Williams, Giancarlo Mari, Gabriella Pridjian, David S Mckenna, Marc Parrish, Eugene Chang, Sarah Osmundson, Joanne Quinones, Jeff M Szychowski, Alan T N Tita

Faculty, Staff and Students Publications

Objective: To evaluate maternal and neonatal outcomes by type of antihypertensive used in participants of the CHAP (Chronic Hypertension in Pregnancy) trial.

Methods: We conducted a planned secondary analysis of CHAP, an open-label, multicenter, randomized trial of antihypertensive treatment compared with standard care (no treatment unless severe hypertension developed) in pregnant patients with mild chronic hypertension (blood pressure 140-159/90-104 mm Hg before 20 weeks of gestation) and singleton pregnancies. We performed three comparisons based on medications prescribed at enrollment: labetalol compared with standard care, nifedipine compared with standard care, and labetalol compared with nifedipine. Although active compared with standard care …

Genome-Wide Association Study Identifies High-Impact Susceptibility Loci For Hcc In North America, Manal M Hassan, Donghui Li, Younghun Han, Jinyoung Byun, Rikita I Hatia, Erping Long, Jiyeon Choi, Robin Kate Kelley, Sean P Cleary, Anna S Lok, Paige Bracci, Jennifer B Permuth, Roxana Bucur, Jian-Min Yuan, Amit G Singal, Prasun K Jalal, R Mark Ghobrial, Regina M Santella, Yuko Kono, Dimpy P Shah, Mindie H Nguyen, Geoffrey Liu, Neehar D Parikh, Richard Kim, Hui-Chen Wu, Hashem El-Serag, Ping Chang, Yanan Li, Yun Shin Chun, Sunyoung S Lee, Jian Gu, Ernest Hawk, Ryan Sun, Chad Huff, Asif Rashid, Hesham M Amin, Laura Beretta, Robert A Wolff, Samuel O Antwi, Yehuda Patt, Lu-Yu Hwang, Alison P Klein, Karen Zhang, Mikayla A Schmidt, Donna L White, John A Goss, Saira A Khaderi, Jorge A Marrero, Francisco G Cigarroa, Pankil K Shah, Ahmed O Kaseb, Lewis R Roberts, Christopher I Amos

Faculty, Staff and Student Publications

BACKGROUND AND AIMS: Despite the substantial impact of environmental factors, individuals with a family history of liver cancer have an increased risk for HCC. However, genetic factors have not been studied systematically by genome-wide approaches in large numbers of individuals from European descent populations (EDP).

APPROACH AND RESULTS: We conducted a 2-stage genome-wide association study (GWAS) on HCC not affected by HBV infections. A total of 1872 HCC cases and 2907 controls were included in the discovery stage, and 1200 HCC cases and 1832 controls in the validation. We analyzed the discovery and validation samples separately and then conducted a …

Epigenetic Activation Of Sox11 Is Associated With Recurrence And Progression Of Ductal Carcinoma In Situ To Invasive Breast Cancer, Warapen Treekitkarnmongkol, Vandna Shah, Kazuharu Kai, Hiroshi Katayama, Justin Wong, Farah A Ladha, Tristian Nguyen, Brian Menegaz, Wei Lu, Fei Yang, Barbara Mino, Ximing Tang, Mihai Gagea, Harsh Batra, Maria Gabriela Raso, Ignacio I Wistuba, Savitri Krishnamurthy, Sarah E Pinder, Elinor J Sawyer, Alastair M Thompson, Subrata Sen

Faculty, Staff and Student Publications

Background: Risk of recurrence and progression of ductal carcinoma in situ (DCIS) to invasive cancer remains uncertain, emphasizing the need for developing predictive biomarkers of aggressive DCIS.

Methods: Human cell lines and mouse models of disease progression were analyzed for candidate risk predictive biomarkers identified and validated in two independent DCIS cohorts.

Results: RNA profiling of normal mammary and DCIS tissues (n = 48) revealed that elevated SOX11 expression correlates with MKI67, EZH2, and DCIS recurrence score. The 21T human cell line model of DCIS progression to invasive cancer and two mouse models developing mammary intraepithelial neoplasia confirmed the findings. …

Advancing Understanding Of Opinions, Perceptions, And Knowledge In Underrepresented Communities In The El Paso Region To Promote Electric Vehicles And Electrified Infrastructure Use To Reduce Environmental Impacts, Liliana Lozada-Medellin

Open Access Theses & Dissertations

As the transportation and automotive industries continue growing, environmental and human health impacts remain a growing concern for planners, policy-makers, constructors, and the public as well (Krause et al., 2013; Larson et al., 2014). Although Electric Vehicles (EVs) are entering the market as a green technology solution to counteract greenhouse gas (GHG) emissions from internal combustion engine vehicles (ICEVs), there are still barriers that need to be overcome for widespread diffusion and adoption as the best solution. These include disseminating basic information about the technology for public awareness, considering equity concerns, and ensuring equitable access to infrastructure for all (L. …

Lethal Phenotypes In Mendelian Disorders, Pilar Cacheiro, Samantha Lawson, Ignatia B Van Den Veyver, Gabriel Marengo, David Zocche, Stephen A Murray, Michael Duyzend, Peter N Robinson, Damian Smedley

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from human population sequencing studies. Several repositories document phenotypic annotations for rare disorders; however, there is a lack of comprehensive reporting on lethal phenotypes.

Methods: We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death. We characterized the genes across these lethality categories, …