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The Exploration Into The Influence Of Social Unconscious On The Individual Through Cyberpunk, Jiarong Lin Dec 2021

The Exploration Into The Influence Of Social Unconscious On The Individual Through Cyberpunk, Jiarong Lin

Theses - ALL

The main purpose of this thesis is to explore the influence of the social unconscious on human beings in a future context. In Fromm's view, the social unconscious refers to Individuals who are afraid of being separated from the society they live in, they often adapt and distort their human needs to meet the requirements of our social system. However, with the strengthening of personality and self-awareness in the present society, how will the relationship between the social subconscious and people's selfawareness change in the future? This is the key issue of this thesis. In the first part, by studying …


The Role Of Rab11 Or Rab8-Associated Membranes During Kupffer's Vesicle (Kv) Lumen Formation In Vivo, Eric Ingram Dec 2021

The Role Of Rab11 Or Rab8-Associated Membranes During Kupffer's Vesicle (Kv) Lumen Formation In Vivo, Eric Ingram

Theses - ALL

In early embryonic development, cells undergo a series of shape changes called tissue morphogenesis by which tissues develop into an organ. One mechanism that is potentially vital to tissue morphogenesis is abscission, the cleavage of the cytokinetic bridge. Our lab has proposed that abscission is required for tissue morphogenesis in vivo, specifically in the zebrafish left-right organizer, Kupffer's vesicle (KV). The Hehnly Lab's testable model for KV morphogenesis is that a population of cells, some in cytokinesis, group together in a pre-rosette structure and then self-assemble to form a rosette-structure where cells orient their cytokinetic bridges toward the rosette center. …


Predicting Drug-Induced Liver Injury With Artificial Intelligence, Ting Li Dec 2021

Predicting Drug-Induced Liver Injury With Artificial Intelligence, Ting Li

Theses and Dissertations

Drug-induced liver injury (DILI) is an undesirable side effect to the liver caused by the common use of drugs, which is of great concern to the patients, physicians, the pharmaceutical industry, and government regulators. The current animal testing models do not present reliable results on the human DILI risk prediction during the preclinical phase. Therefore, there is an urgent need to find alternative methods to improve the human DILI risk prediction during the early stage of development. Utilizing the accumulated high-throughput transcriptomics profiles from L1000, we constructed an 8-layer deep neural network for human DILI prediction based on the largest …


The Poverty Of Simplicity: Austerity, Alienation, And Tiny Houses, Brian Richard Hennigan Dec 2021

The Poverty Of Simplicity: Austerity, Alienation, And Tiny Houses, Brian Richard Hennigan

Dissertations - ALL

Tiny houses – stand-alone, fully functional dwellings generally between 100 and 400 square-feet – are increasingly popular in the United States. The degradation of working class life wrought through neoliberal policy and then punctuated by the Great Recession propels this popularity. Next to traditional houses, tiny houses are significantly cheaper. Those among the middle stratum of the working class have sought out tiny houses as a means to ease their financial anxiety. Rather than merely a newer form of cheaper housing, an entire lifestyle movement has emerged around tiny houses. Anti-consumerism is the keystone to this lifestyle movement. For enthusiasts, …


Policy And Polity: Space, Boundaries, And Governance In Early Modern London, 1580-1640, Michael Britton Dec 2021

Policy And Polity: Space, Boundaries, And Governance In Early Modern London, 1580-1640, Michael Britton

Dissertations - ALL

The kingdom's principal city for law, governance, trade, and consumption, early modern London experienced a period of rapid growth and sprawl from the mid-sixteenth century. This nurtured more dense and frequent mobility and produced a dynamic, kinetic city. For civic authorities, however, boundaries took on greater urgence. Drawing on theories and principles of border studies, this dissertation treats the city's boundaries as processes forged and transformed by engagement, by the interplay between popular activity, political programs, and perceptions of space and authority. Policy and Polity, Space, Boundaries, and Governance in Early Modern London, 1580-1640 examines bordering at London Bridge, the …


Developing An Air Pollutant Emissions Database For Global Economic Analysis, Maksym Chepeliev Dec 2021

Developing An Air Pollutant Emissions Database For Global Economic Analysis, Maksym Chepeliev

Department of Agricultural Economics Faculty Publications

According to the Global Burden of Disease study (Cohen et al., 2017), in 2015 ambient air pollutant emissions caused 4.2 million deaths and a loss of 103.1 million disability-adjusted life-years, making it the fifth-ranked global risk factor. In terms of the welfare costs of mortality and illnesses associated with outdoor air pollutant emissions, global estimates for 2015 range between $2.7-3.2 trillion (Coady et al., 2015; OECD, 2016). Still, while greenhouse gas emissions are usually well represented in many global economic databases and models, air pollutant emission accounts in most cases are not included. In particular, this is the case for …


Platelet Micrornas Inhibit Primary Tumor Growth Via Broad Modulation Of Tumor Cell Mrna Expression In Ectopic Pancreatic Cancer In Mice, Jeremy G.T. Wurtzel, Sophia Lazar, Sonali Sikder, Kathy Q Cai, Igor Astsaturov, Andrew S Weyrich, Jesse W Rowley, Lawrence E. Goldfinger Dec 2021

Platelet Micrornas Inhibit Primary Tumor Growth Via Broad Modulation Of Tumor Cell Mrna Expression In Ectopic Pancreatic Cancer In Mice, Jeremy G.T. Wurtzel, Sophia Lazar, Sonali Sikder, Kathy Q Cai, Igor Astsaturov, Andrew S Weyrich, Jesse W Rowley, Lawrence E. Goldfinger

Department of Medicine Faculty Papers

We investigated the contributions of platelet microRNAs (miRNAs) to the rate of growth and regulation of gene expression in primary ectopic tumors using mouse models. We previously identified an inhibitory role for platelets in solid tumor growth, mediated by tumor infiltration of platelet microvesicles (microparticles) which are enriched in platelet-derived miRNAs. To investigate the specific roles of platelet miRNAs in tumor growth models, we implanted pancreatic ductal adenocarcinoma cells as a bolus into mice with megakaryocyte-/platelet-specific depletion of mature miRNAs. We observed an ~50% increase in the rate of growth of ectopic primary tumors in these mice compared to controls …


Investigating The Behavioral And Social Context Of Sound In The Surface Foraging Strategies Of Humpback Whales (Megaptera Novaeangliae), Sarah Weiss Dec 2021

Investigating The Behavioral And Social Context Of Sound In The Surface Foraging Strategies Of Humpback Whales (Megaptera Novaeangliae), Sarah Weiss

Theses - ALL

Humpback whales are known for the plastic and variable nature of their acoustic communication, social interactions, and foraging behaviors. Distinct foraging strategies are used to capture different prey types at the surface and on the seafloor. Sounds produced during foraging are thought to facilitate intraspecific social communication. Previous studies have identified specific sound types produced by humpbacks associated exclusively with benthic foraging strategies, suggesting functions related to foraging behavior. In this study, we use suction cup acoustic tags (DTAGs) deployed on humpbacks in the western North Atlantic from 2006-2009 to investigate the social sound production associated with surface foraging ecology, …


Exploring The Therapeutic Effect Of Children's Picture Books, Yunfan Chen Dec 2021

Exploring The Therapeutic Effect Of Children's Picture Books, Yunfan Chen

Theses - ALL

This thesis discusses the phenomenon of left-behind children in China amid the country's urbanization, revealing the psychological state of these children in the countryside.

In this thesis, some psychological research sources have proven how picture books relieve children's emotions and attain therapeutic effects on children's psychology. Then, this thesis analyzes two examples of children's books depicting how picture books help children to manage their negative feelings and having a therapeutic effect on the child.

This thesis claims that bibliotherapy through children's independent reading of books can effectively alleviate left-behind children's negative emotions.


Ending Christian Hegemony: Jean-Luc Nancy And The Ends Of Eurocentric Thought, Colby Dickinson Dec 2021

Ending Christian Hegemony: Jean-Luc Nancy And The Ends Of Eurocentric Thought, Colby Dickinson

Theology: Faculty Publications and Other Works

This essay addresses Jean-Luc Nancy’s “deconstruction of Christianity” and how what Christianity proclaims through enacting a deconstruction of itself brings an end to the western, hegemonic hold that Christian imperialism has perpetuated for centuries. Nancy, for his part, takes up the name of Christianity insofar as it is a religious phenomenon that signals a trajectory of thought in the West that must be discerned as providing an “exit from religion and of the expansion of the atheist world.” Since deconstructing the dominant narratives of the West means deconstructing the myth of a sovereign, autonomous deity whose reign, Nancy declares, has …


Intralocus Sexual Conflict Over Optimal Nutrient Intake And The Evolution Of Sex Differences In Life Span And Reproduction, Michael Hawkes, Sarah M. Lane, Scott K. Sakaluk, John Hunt, Clarissa M. House, Kim Jensen, James Rapkin Dec 2021

Intralocus Sexual Conflict Over Optimal Nutrient Intake And The Evolution Of Sex Differences In Life Span And Reproduction, Michael Hawkes, Sarah M. Lane, Scott K. Sakaluk, John Hunt, Clarissa M. House, Kim Jensen, James Rapkin

Faculty Publications – Biological Sciences

  1. Despite widespread variation in life span across species, three clear patterns exist: sex differences in life span are ubiquitous, life span is commonly traded against reproduction, and nutrition has a major influence on these traits and how they trade-off. One process that potentially unites these patterns is intralocus sexual conflict over the optimal intake of nutrients for life span and reproduction. If nutrient intake has sex-specific effects on life span and reproduction but nutrient choice is genetically linked across the sexes, intralocus sexual conflict will occur and may prevent one or both sexes from feeding to their nutritional optima.
  2. Here …


Aeiva Has You Covered For Art Entertainment In Early 2022, Staff Dec 2021

Aeiva Has You Covered For Art Entertainment In Early 2022, Staff

Browse All News

No abstract provided.


The Dark Realism Of Miyazawa Kenji: Social Activism In The Science-Fiction Children's Story, The Life Of Gusukō Budori, And Its Precursor Work, Elsiemae Ann Ito Dec 2021

The Dark Realism Of Miyazawa Kenji: Social Activism In The Science-Fiction Children's Story, The Life Of Gusukō Budori, And Its Precursor Work, Elsiemae Ann Ito

Dissertations and Theses

Miyazawa Kenji (1896-1933) is widely known in Japan as a children's story writer and poet, but he was also grounded in real life as a teacher, soil scientist, and farmer. Recognizing the harsh realities for farmers in his native Iwate, he nonetheless dreamed of an ideal world, as seen in his stories. To better understand the dark realities of life in Iwate, Japan, Miyazawa changed his occupation from teacher to farmer, focusing more on social activism that would better the lives of the people in his community. His late children's story, The Life of Gusukō Budori (Gusukō Budori no …


Effects Of Nitrogen Fertilization On The Production Of Panicum Maximum Cv. Ipr 86 Under Grazing, S. M. B. Lugão, L. R. De A. Rodrigues, E. B. Malheiros, J. J. Dos S. Abrahão, A. De Morais Dec 2021

Effects Of Nitrogen Fertilization On The Production Of Panicum Maximum Cv. Ipr 86 Under Grazing, S. M. B. Lugão, L. R. De A. Rodrigues, E. B. Malheiros, J. J. Dos S. Abrahão, A. De Morais

IGC Proceedings (1977-2023)

The experiment was conducted at the Experimental Station of Paranavaí/IAPAR-PR-Brazil, from October 1998 to May 1999, to evaluate the effects of N fertilization on Panicum maximum cv. IPR 86 pastures. Four doses of N (0; 150; 300; and 450 kg.ha-1.year-1) were applied to pastures under rotational grazing with grazing cycles (GCs) of 40 days (5 days-grazing and 35 days-rest). It was used a randomized complete block design, with split-plots, and two replications per treatment, being the N-doses studied in the main plots and the GCs in the sub-plots. In all GCs the variables dry matter of …


Positive Leadership Theory For Online Dissertation Mentoring, Lee Stadtlander Dec 2021

Positive Leadership Theory For Online Dissertation Mentoring, Lee Stadtlander

Journal of Educational Research and Practice

A number of theoretical models have been suggested for how to mentor doctoral students. However, they tend to rely on hierarchical and authoritarian relationships between the faculty and students. Such models tend to create dependency and fear of the faculty, resulting in a reluctance in coming to the mentor for guidance. Such models do not tend to work well with online adult doctoral students with jobs and families. This paper proposes a model of positive leadership for online doctoral mentors, where mentors are accessible and create an environment where success is assumed and social support is provided by both the …


Agricultural Support For The Old Colony Mennonites Of Belize: A Collaborative Effort Between North American Old Order Mennonites And A Cornell Extension Educator, Judson Reid Dec 2021

Agricultural Support For The Old Colony Mennonites Of Belize: A Collaborative Effort Between North American Old Order Mennonites And A Cornell Extension Educator, Judson Reid

Journal of Amish and Plain Anabaptist Studies

The Old Colony Mennonites of Belize practice a conservative form of Anabaptism where technology, dress and lifestyle choices are informed by church standards. Members live in a spatially contiguous Colony, which creates land pressure over time as population increases. The development of new Colonies is necessary for the Mennonites to participate in agricultural livelihoods. The Indian Creek Colony of Belize has experienced agricultural and economic hardships since its inception in the 1989 due to land costs, crop failures and debt structure. Old Order Mennonites of North America developed an outreach effort to assist with on-farm production of vegetable crops to …


Penn State Extension Services And Plain People: An Inside Perspective On A Trust-Based Relationship, Phillip Martin Dec 2021

Penn State Extension Services And Plain People: An Inside Perspective On A Trust-Based Relationship, Phillip Martin

Journal of Amish and Plain Anabaptist Studies

This perspective on Penn State Extension Services and plain people is based on my personal experiences as a plain person, in which I interacted with Extension Services first as a farmer, and then (while working on a doctorate) as a part of the Extension system. Penn State Extension started over a century ago and was deliberate in reaching out to plain (conservative Anabaptist) farmers since the beginning, which led to a history of trust-based cooperation. For all these successes there remain challenges to effective cooperation with certain plain individuals and subgroups. I suggest these challenges are broadly similar to those …


Hotline Number To Reach And Offer Agricultural Information To Plain Anabaptists During The Covid-19 Workplace Closures, Emily Shoop, Carly Becker, Nathan Glenn Briggs, Danielle Smarsh Dec 2021

Hotline Number To Reach And Offer Agricultural Information To Plain Anabaptists During The Covid-19 Workplace Closures, Emily Shoop, Carly Becker, Nathan Glenn Briggs, Danielle Smarsh

Journal of Amish and Plain Anabaptist Studies

The Penn State Extension Animal Systems Team developed a toll-free hotline phone number to convey short educational messages to maintain contact and outreach to Pennsylvania’s animal producing Amish, Mennonite, and other plain Anabaptist populations. During the COVID-19 pandemic, Penn State Extension’s programming went largely online via webinars, online courses, and emails. This change in programming excluded a large sector of Pennsylvania farmers who do not use or have access to the internet and, as such, were liable to miss important best management practice reviews and timely updates in animal agriculture. The Animal Systems Hotline offered callers the choice to listen …


Effective Communication And Programming When Working With Amish Farmers: Reflections From A Wisconsin Agriculture Educator, Vance Haugen Dec 2021

Effective Communication And Programming When Working With Amish Farmers: Reflections From A Wisconsin Agriculture Educator, Vance Haugen

Journal of Amish and Plain Anabaptist Studies

The author, an agricultural educator who worked with the Amish in Wisconsin for over 30 years, discusses his outreach efforts, which have been focused on managed grazing, a method well suited to Amish producers. Managed grazing offers agronomic, economic, and ecological benefits. A key educational tool for communicating managed grazing practices is the pasture walk, and the author relates lessons learned from these events. The communal nature and focus on farmer-to-farmer information exchange is well received by Amish producers. It is helpful if pasture walk scheduling is done well in advance and is focused on farmer-based problems with farmer-based solutions …


Farm Food Safety Training For Amish Produce Growers Covered Under The Food Safety Modernization Act (Fsma), Luke Laborde, Jeffrey Stoltzfus, Kaila Thorn Dec 2021

Farm Food Safety Training For Amish Produce Growers Covered Under The Food Safety Modernization Act (Fsma), Luke Laborde, Jeffrey Stoltzfus, Kaila Thorn

Journal of Amish and Plain Anabaptist Studies

Commercial production of fruits and vegetables on Amish farms provides significant amounts of fresh produce that are regionally distributed through wholesale markets. In response to several multi-state foodborne disease outbreaks linked to contamination of fresh produce, the U.S. Food and Drug Administration (FDA) mandated farm food safety standards that most commercial produce growers must implement. Although there have been no foodborne disease outbreaks attributed to fresh produce grown on Amish farms, this regulation poses regulatory challenges for those who sell produce at wholesale produce auctions, cooperatives, and distribution warehouses. This article describes recent farm food safety standards issued by the …


Performing Amish Agrarianism: Negotiating Tradition In The Maintenance Of Pennsylvania Dairy Farms, Nicole Welk-Joerger Dec 2021

Performing Amish Agrarianism: Negotiating Tradition In The Maintenance Of Pennsylvania Dairy Farms, Nicole Welk-Joerger

Journal of Amish and Plain Anabaptist Studies

Amish people have a reputation for being ecologically and environmentally conscientious. As numerous scholars in Amish and Plain Anabaptist studies have demonstrated, Amish views of the environment are diverse and ultimately anchored in the understanding that God made nature for human use. In these cases, Amish views of the environment could be described as much more anchored in traditional philosophical notions of “agrarianism” than “environmentalism.” In this article, I explore how some Amish approach agrarianism with a turn from more traditional farm life toward necessary economic engagement with multi-faceted operations and diversification. Based on intensive ethnographic research and participant observation, …


Caring For The Land And The Livestock: Anabaptist Agricultural Practices In Europe And Colonial Pennsylvania, Rebecca Shenton Dec 2021

Caring For The Land And The Livestock: Anabaptist Agricultural Practices In Europe And Colonial Pennsylvania, Rebecca Shenton

Journal of Amish and Plain Anabaptist Studies

Anabaptists have a strong history of agricultural innovation and care for the land. Their innovative spirit was forged out of persecution, migration, and the need to survive in challenging circumstances. This article examines the agricultural practices of seventeenth- and eighteenth-century Swiss and South German Anabaptist farmers and those of eighteenth-century Anabaptist immigrants to Pennsylvania. European Anabaptist tenant farmers distinguished themselves by their family-centered mixed agriculture and their investment in both the land (using manure, lime, gypsum, and crop rotation to improve the soil) and livestock (improving natural meadows and planting pastures for fodder, maintaining clean barns, practicing confinement feeding, and …


Manila’S Black Nazarene And The Reign Of Bathala, Antonio D. Sison Dec 2021

Manila’S Black Nazarene And The Reign Of Bathala, Antonio D. Sison

Journal of Global Catholicism

A consideration of how the dynamics surrounding Manila's Black Nazarene express crucial themes in the Filipino psyche. The article specifically addresses the importance of "felt-experience" (pagdama) in devotion to the Black Nazarene as well as its connections to indigenous Filipino religion.


Catholicism In Context: Religious Practice In Latin America, Gustavo Morello Sj Dec 2021

Catholicism In Context: Religious Practice In Latin America, Gustavo Morello Sj

Journal of Global Catholicism

A critical problem to study Catholicism in the context of Latin American modernity, is that the conceptual tools we use to study religion were designed to understand the transformations that modernity provoked in European religiosity. Studies on the religion of Latin Americans have largely explored the religiosity of the population through surveys that measure attendance, adherence and affiliation. While some anthropologists have explored religious practices among particular groups, we do not know how ordinary, urban Latin Americans practice religion. To fill this gap, a group of researchers from Boston College, Pontifical Catholic University of Peru, Catholic University of Córdoba, and …


The Relevance Of The Five New Laws Of Librarianship To The Development Of Mosque Libraries In Indonesia, Ahmad Amir Aziz Dec 2021

The Relevance Of The Five New Laws Of Librarianship To The Development Of Mosque Libraries In Indonesia, Ahmad Amir Aziz

Library Philosophy and Practice (e-journal)

In today's world of information technology disruption, library science must adapt quickly and accurately. The true library will always play an important role as a center of knowledge, including the mosque library, which is a distinct type of library because the majority of its collections are religious in nature. This article intends to discuss the New Five Laws of Librarianship as proposed by Michael Gorman, who revised the Ranganathan concept. The concept will be tested to determine its applicability to the design of the mosque library development, which is tasked with providing services to the surrounding Muslim community. Gorman's principle …


Late-Life Exercise Mitigates Skeletal Muscle Epigenetic Aging, Kevin A. Murach, Andrea L. Dimet-Wiley, Yuan Wen, Camille R. Brightwell, Christine M. Latham, Cory M. Dungan, Christopher S. Fry, Stanley J. Watowich Dec 2021

Late-Life Exercise Mitigates Skeletal Muscle Epigenetic Aging, Kevin A. Murach, Andrea L. Dimet-Wiley, Yuan Wen, Camille R. Brightwell, Christine M. Latham, Cory M. Dungan, Christopher S. Fry, Stanley J. Watowich

Center for Muscle Biology Faculty Publications

There are functional benefits to exercise in muscle, even when performed late in life, but the contributions of epigenetic factors to late-life exercise adaptation are poorly defined. Using reduced representation bisulfite sequencing (RRBS), ribosomal DNA (rDNA) and mitochondrial-specific examination of methylation, targeted high-resolution methylation analysis, and DNAge™ epigenetic aging clock analysis with a translatable model of voluntary murine endurance/resistance exercise training (progressive weighted wheel running, PoWeR), we provide evidence that exercise may mitigate epigenetic aging in skeletal muscle. Late-life PoWeR from 22–24 months of age modestly but significantly attenuates an age-associated shift toward promoter hypermethylation. The epigenetic age of muscle …


Unravelling Rubber Tree Growth By Integrating Gwas And Biological Network-Based Approaches, Felipe Roberto Francisco, Alexandre Hild Aono, Carla Cristina Da Silva, Paulo S. Gonçalves, Erivaldo J. Scaloppi Junior, Vincent Le Guen, Roberto Fritsche-Neto, Livia Moura Souza, Anete Pereira De Souza Dec 2021

Unravelling Rubber Tree Growth By Integrating Gwas And Biological Network-Based Approaches, Felipe Roberto Francisco, Alexandre Hild Aono, Carla Cristina Da Silva, Paulo S. Gonçalves, Erivaldo J. Scaloppi Junior, Vincent Le Guen, Roberto Fritsche-Neto, Livia Moura Souza, Anete Pereira De Souza

Faculty Publications

Hevea brasiliensis (rubber tree) is a large tree species of the Euphorbiaceae family with inestimable economic importance. Rubber tree breeding programs currently aim to improve growth and production, and the use of early genotype selection technologies can accelerate such processes, mainly with the incorporation of genomic tools, such as marker-assisted selection (MAS). However, few quantitative trait loci (QTLs) have been used successfully in MAS for complex characteristics. Recent research shows the efficiency of genome-wide association studies (GWAS) for locating QTL regions in different populations. In this way, the integration of GWAS, RNA-sequencing (RNA-Seq) methodologies, coexpression networks and enzyme networks can …


Plastic, Pollution, Art, And The Caribbean, Celine Collazo Dec 2021

Plastic, Pollution, Art, And The Caribbean, Celine Collazo

Theses and Dissertations

The impact of a growing ocean pollution problem can be seen on the trash-filled shores of Caribbean beaches. Through a contextualization of the work of three artists, Tony Capellán, Radamés ‘Juni’ Figueroa, and Alejandro Durán, this paper discusses the cause and effects of such detritus, and possibilities for change.


Book Review: Scorched Earth: Environmental Warfare As A Crime Against Humanity And Nature, Jeremy Ritzer Dec 2021

Book Review: Scorched Earth: Environmental Warfare As A Crime Against Humanity And Nature, Jeremy Ritzer

Genocide Studies and Prevention: An International Journal

The subtitle of Emmanuel Kreike’s Scorched Earth foreshadows the goal of this impressive and comprehensive contribution to the field. His goal is to chip away at the Nature-Culture dichotomy that he argues drives, and limits, much of the analysis that is produced of historical, and modern, warfare. Kreike uses the concept of environcide, which he defines as “intentionally or unintentionally damaging, destroying, or rendering inaccessible environmental infrastructure”, and argues that the traditional assumptions about nature and culture in the study of warfare obscure the importance of the natural world in determining who lives and who dies. For the field of …


A Next Generation Sequencing-Based Protocol For Screening Of Variants Of Concern In Autism Spectrum Disorder, Jie Huang, Jun Liu, Ruiyi Tian, Kevin Liu, Patrick Zhuang, Hannah Tayla Sherman, Christoph Budjan, Michelle Fong, Min-Seo Jeong, Xue-Jun Kong Dec 2021

A Next Generation Sequencing-Based Protocol For Screening Of Variants Of Concern In Autism Spectrum Disorder, Jie Huang, Jun Liu, Ruiyi Tian, Kevin Liu, Patrick Zhuang, Hannah Tayla Sherman, Christoph Budjan, Michelle Fong, Min-Seo Jeong, Xue-Jun Kong

2020-Current year OA Pubs

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation, tailored towards patients with ASD and offer very limited interpretation for clinical significance. Using WGS data from six family trios, we demonstrate the clinical feasibility and technical implementation of an evidence-based, fully transparent bioinformatics pipeline and report framework for an ASD-focused WGS genetic report. We …