Genetics and Genomics Commons^™

Assessment Of United States Department Of Agriculture Food Safety Inspection Service Humane Handling Enforcement Actions: 2018–2020, Karly N. Anderson, Ashlynn A. Kirk, Kurt D. Vogel

Department of Animal Science: Faculty Publications

Federally inspected slaughter establishments in the United States must adhere to the Humane Methods of Slaughter Act and regulations that enforce it. Failure to comply with this law results in a Humane Handling Enforcement Action (HHEA) issued by the United States Department of Agriculture Food Safety Inspection Service (USDA FSIS). The objective of this study was to systematically analyze and describe HHEAs issued between 2018 and 2020. Enforcement action notification letters were accessed from the USDA FSIS website and date, location, regulatory action, reason for noncompliance, species, and follow up action for each HHEA was recorded. …

Amplification Of The Plag-Family Genes-Plagl1 And Plagl2-Is A Key Feature Of The Novel Tumor Type Cns Embryonal Tumor With Plagl Amplification, Michaela-Kristina Keck, Martin Sill, Andrea Wittmann, Piyush Joshi, Damian Stichel, Pengbo Beck, Konstantin Okonechnikow, Philipp Sievers, Annika K. Wefers, Nasir Uddin

Department of Pathology and Laboratory Medicine

Pediatric central nervous system (CNS) tumors represent the most common cause of cancer-related death in children aged 0-14 years. They differ from their adult counterparts, showing extensive clinical and molecular heterogeneity as well as a challenging histopathological spectrum that often impairs accurate diagnosis. Here, we use DNA methylation-based CNS tumor classification in combination with copy number, RNA-seq, and ChIP-seq analysis to characterize a newly identified CNS tumor type. In addition, we report histology, patient characteristics, and survival data in this tumor type. We describe a biologically distinct pediatric CNS tumor type (n = 31 cases) that is characterized by focal …

Epidemiological Aspects Of Equid Herpesvirus-Associated Myeloencephalopathy (Ehm) Outbreaks, Eva Klouth, Yury Zablotski, Jessica L. Petersen, Marco De Bruijin, Gittan Gröndahl, Susanne Müller, Lutz S. Goehring

Department of Animal Science: Faculty Publications

: Equid Herpesvirus Myeloencephalopathy (EHM) is a multifactorial disease following an EHV-1 infection in Equidae. We investigated a total of 589 horses on 13 premises in Europe in search of risk factors for the development of EHM. We found that fever (p < 0.001), increasing age (p = 0.032), and female sex (p = 0.042) were risk factors for EHM in a logistic mixed model. Some breeds had a decreased risk to develop EHM compared to others (Shetland and Welsh ponies; p = 0.017; p = 0.031), and fewer EHV-1-vaccinated horses were affected by EHM compared to unvaccinated horses (p = …

Il-33 Promotes Increased Replication Of Theiler’S Murine Encephalomyelitis Virus In Raw264.7 Macrophage Cells With An Irf3-Dependent Response, Ahmed Esmael, Thomas M. Petro

Nebraska Center for Virology: Faculty Publications

Interleukin-33 (IL-33), which promotes M2 macrophage development, may influence the control of viruses, such as Theiler’s Murine Encephalomyelitis Virus (TMEV) that infect macrophages. Because Interferon Regulatory Factor-3 (IRF3) is also critical to control of TMEV infection in macrophages, information on the relationship between IL-33 and IRF3 is important. Thus, RAW264.7 Lucia murine macrophage lineage cells with an endogenous IRF3-ISRE promoter driving secreted luciferase and IRF3KO RAW Lucia, a subline deficient in IRF3, were challenged with TMEV. After the challenge, considerable TMEV RNA detected at 18 and 24 h in RAW cells was significantly elevated in IRF3KO RAW cells. TMEV induction …

Privacy-Aware Estimation Of Relatedness In Admixed Populations, Su Wang, Miran Kim, Wentao Li, Xiaoqian Jiang, Han Chen, Arif Harmanci

Faculty, Staff and Student Publications

BACKGROUND: Estimation of genetic relatedness, or kinship, is used occasionally for recreational purposes and in forensic applications. While numerous methods were developed to estimate kinship, they suffer from high computational requirements and often make an untenable assumption of homogeneous population ancestry of the samples. Moreover, genetic privacy is generally overlooked in the usage of kinship estimation methods. There can be ethical concerns about finding unknown familial relationships in third-party databases. Similar ethical concerns may arise while estimating and reporting sensitive population-level statistics such as inbreeding coefficients for the concerns around marginalization and stigmatization.

RESULTS: Here, we present SIGFRIED, which makes …

Il-33 Promotes Increased Replication Of Theiler’S Murine Encephalomyelitis Virus In Raw264.7 Macrophage Cells With An Irf3-Dependent Response, Ahmed Esmael, Thomas M. Petro

Nebraska Center for Virology: Faculty Publications

Interleukin-33 (IL-33), which promotes M2 macrophage development, may influence the control of viruses, such as Theiler’s Murine Encephalomyelitis Virus (TMEV) that infect macrophages. Because Interferon Regulatory Factor-3 (IRF3) is also critical to control of TMEV infection in macrophages, information on the relationship between IL-33 and IRF3 is important. Thus, RAW264.7 Lucia murine macrophage lineage cells with an endogenous IRF3-ISRE promoter driving secreted luciferase and IRF3KO RAW Lucia, a subline deficient in IRF3, were challenged with TMEV. After the challenge, considerable TMEV RNA detected at 18 and 24 h in RAW cells was significantly elevated in IRF3KO RAW cells. TMEV induction …

A Single Amino Acid Substitution In Porcine Reproductive And Respiratory Syndrome Virus Glycoprotein 2 Significantly Impairs Its Infectivity In Macrophages, Jayeshbhai Chaudhari, Raquel Arruda Leme, Kassandra Durazo-Martinez, Sarah Vitosh-Sillman, Aspen M. Workman, Hiep Vu

Nebraska Center for Virology: Faculty Publications

Porcine reproductive and respiratory syndrome virus (PRRSV) has a restricted tropism for macrophages and CD163 is a key receptor for infection. In this study, the PRRSV strain NCV1 was passaged on MARC-145 cells for 95 passages, and two plaque-clones (C1 and C2) were randomly selected for further analysis. The C1 virus nearly lost the ability to infect porcine alveolar macrophages (PAMs), as well as porcine kidney cells expressing porcine CD163 (PK15-pCD163), while the C2 virus replicates well in these two cell types. Pretreatment of MARC-145 cells with an anti-CD163 antibody nearly blocked C1 virus infection, indicating that the virus still …

The First Complete Genome Of The Simian Malaria Parasite Plasmodium Brasilianum, Marko Bajic, Shashidhar Ravishankar, Mili Sheth, Lori A. Rowe, M. Andreina Pacheco, Dhruviben S. Patel, Dhwani Batra, Vladimir Loparev, Christian Olsen, Ananias A. Escalante, Fredrik Vannberg, Venkatachalam Udhayakumar, John W. Barnwell, Eldin Talundzic

Harold W. Manter Laboratory of Parasitology: Library Materials

Naturally occurring human infections by zoonotic Plasmodium species have been documented for P. knowlesi, P. cynomolgi, P. simium, P. simiovale, P. inui, P. inui-like, P. coatneyi, and P. brasilianum. Accurate detection of each species is complicated by their morphological similarities with other Plasmodium species. PCR-based assays offer a solution but require prior knowledge of adequate genomic targets that can distinguish the species. While whole genomes have been published for P. knowlesi, P. cynomolgi, P. simium, and P. inui, no complete genome for P. brasilianum has …

Polyphenolics, Glucosinolates And Isothiocyanates Profiling Of Aerial Parts Of Nasturtium Officinale (Watercress), Sotiris Kyriakou, Kyriaki Michailidou, Tom Amery, Kyle Stewart, Paul G. Winyard, Dimitrios T. Trafalis, Rodrigo Franco, Aglaia Pappa, Mihalis I. Panayiotidis

Nebraska Center for Virology: Faculty Publications

Watercress (Nasturtium officinale) is a rich source of secondary metabolites with disease-preventing and/or health-promoting properties. Herein, we have utilized extraction procedures to isolate fractions of polyphenols, glucosinolates and isothiocyanates to determine their identification, and quantification. In doing so, we have utilized reproducible analytical methodologies based on liquid chromatography with tandem mass spectrometry by either positive or negative ion mode. Due to the instability and volatility of isothiocyanates, we followed an ammonia derivatization protocol which converts them into respective ionizable thiourea derivatives. The analytes’ content distribution map was created on watercress flowers, leaves and stems. We have demonstrated that …

The Conquest Of Milk: The Rise Of Lactase Persistence And The Fall Of Scandinavian Hunter-Gatherers, Nicholas Mays

James Madison Undergraduate Research Journal (JMURJ)

Over half of the global human population suffers from lactase nonpersistence, a condition marked by losing the ability to digest lactose after infancy. However, a minority of the global population, primarily located in Central and Northern Europe, has a genetic mutation that results in lactase persistence, which is the continued ability to process lactose after infancy. This interdisciplinary analysis blends archaeology, cultural anthropology, evolutionary biology, and archaeogenetics to explore the origin and rise of lactase persistence in Europe and its contribution to the end of hunter-gatherer societies in Scandinavia. Furthermore, the paper uses gene-culture coevolutionary theory to argue that lactase …

A Pooling Strategy For Detecting Carbapenem Resistance Genes By The Xpert Carba-R Test In Rectal Swab Specimens, Fred C. Tenover, Peng Zhang, Qi Wang, Chaoe Zhou, Feifei Zhang, Xinghui Gao, Yi-Wei Tang, Hui Wang

Biology Faculty Publications

Rapid and accurate detection of carriers of carbapenemase-producing organisms (CPO) in hospitalized patients is critical for infection control and prevention. This study aimed to evaluate a pooling strategy for the detection of carbapenem resistance genes (CRG) in multiple specimens using the Xpert Carba-R test. Two rectal swabs each were collected from 415 unique patients. One swab was tested by Carba-R on the five specimen-pooled strategy. The other swab was tested individually by culture followed by DNA sequence analysis for CRG as the reference. At the first 5:1 pooling testing, 22 of 83 pools were positive, which yielded 34 positives from …

The Evolving Privacy And Security Concerns For Genomic Data Analysis And Sharing As Observed From The Idash Competition, Tsung-Ting Kuo, Xiaoqian Jiang, Haixu Tang, Xiaofeng Wang, Arif Harmanci, Miran Kim, Kai Post, Diyue Bu, Tyler Bath, Jihoon Kim, Weijie Liu, Hongbo Chen, Lucila Ohno-Machado

Faculty, Staff and Student Publications

Concerns regarding inappropriate leakage of sensitive personal information as well as unauthorized data use are increasing with the growth of genomic data repositories. Therefore, privacy and security of genomic data have become increasingly important and need to be studied. With many proposed protection techniques, their applicability in support of biomedical research should be well understood. For this purpose, we have organized a community effort in the past 8 years through the integrating data for analysis, anonymization and sharing consortium to address this practical challenge. In this article, we summarize our experience from these competitions, report lessons learned from the events …

Spatiotemporal Transcriptome Diversity And Responses To Salinity Tolerance In The Extremophyte Schrenkiella Parvula, Chathura Wijesinghege

LSU Doctoral Dissertations

Schrenkiella parvula is an extremophyte model related to the most widely studied plant model, Arabidopsis thaliana and Brassica crops in the mustard family (Brassicaceae). It can thrive in highly saline environments where the soil is enriched in Na⁺, K⁺, Li⁺, borates, and chlorides. Understanding how this extremophyte can survive high salinity with genomic adaptations can provide insight into developing stress resilient crops in the future. Gene expression of S. parvula in response to salt has been investigated using shoot and root tissue from mature vegetative-phase plants. However, prior studies have not examined the transcript …

Model-Free Identification Of Relevant Variables From Response Data, Alan Veliz-Cuba, David Murrugarra

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.

Unraveling The Complex Interactions Between Members Of The Schistosoma Haematobium Group And Bulinus Snails In And Around Lake Victoria In West Kenya, Caitlin Raiselle Babbitt

Biology ETDs

Schistosoma haematobium, the agent of urogenital schistosomiasis, and related schistosomes are transmitted by members of the genus Bulinus. Each of the 38 Bulinus species vary in their ability to vector schistosome species and non-schistosome trematodes resulting in a patchwork of snail-parasite compatibilities. Accurately identifying snail intermediate hosts and the disease-causing parasites they transmit is critical for snail control strategies and the management of human schistosomiasis. Towards these ends, this thesis identifies bulinid species and the parasites they transmit and implicates certain species in the transmission of S. haematobium. The thesis also includes a systematic review of methods …

Inactivation Of Salmonella In Nonintact Beef During Low-Temperature Sous Vide Cooking, Heather B. Hunt, Samuel C. Watson, Byron D. Chaves, Gary Sullivan

Department of Animal Science: Faculty Publications

Sous vide cooking is a method of food preparation in which food is vacuum sealed and cooked in a water bath that is set to a precise temperature and circulated by a sous vide device. Due to ease of use and affordability, this cooking method has grown increasingly popular in food service kitchens and domestic settings. However, low‐temperature, long holding time sous vide cooking recommendations from manufacturers and chefs in popular press raise food safety concerns – specifically those for the preparation of nonintact beef products. The objective of this experiment was to address these concerns by validating a 5 …

The “Big Six”: Hidden Emerging Foodborne Bacterial Pathogens, Mona G. Alharbi, Rashad R. Al-Hindi, Ahmed Esmael, Ibrahim A. Alotibi, Sheren A. Azhari, Mazen S. Alseghayer, Addisu D. Teklemariam

Nebraska Center for Virology: Faculty Publications

Non-O157 Shiga toxin-producing Escherichia coli (STEC) are emerging serogroups that often result in diseases ranging from diarrhea to severe hemorrhagic colitis in humans. The most common non-O157 STEC are O26, O45, O103, O111, O121, and O145. These serogroups are known by the name “big six” because they cause severe illness and death in humans and the United States Department of Agriculture declared these serogroups as food contaminants. The lack of fast and efficient diagnostic methods exacerbates the public impact of the disease caused by these serogroups. Numerous outbreaks have been reported globally and most of these outbreaks were caused by …

Evaluation Of Growth Performance, Carcass Characteristics, And Methane And Co2 Emissions Of Growing And Finishing Cattle Raised In Extensive Or Partial-Intensive Cow-Calf Production Systems, Zachary E. Carlson, Levi J. Mcphillips, Rick R. Stowell, Galen E. Erickson, Mary E. Drewnoski, Jim C. Macdonald

Department of Animal Science: Faculty Publications

An experiment was conducted over 2 yr to measure performance and greenhouse gas (GHG) emissions of weaned calves from two cow-calf production systems. Crossbred steers and heifers (n = 270, initial body weight (BW) = 207 kg, SD = 35) were used in a randomized complete block design, with treatments applied to the cow-calf system. Treatments were: 1) a traditional system consisting of April to June calving with smooth bromegrass pasture and grazed corn residue as forage resources (TRAD); 2) an alternative system consisting of July to September calving utilizing partial-drylot feeding, summer-planted oats, and corn residue grazing (ALT). …

Cell Size Control Mechanisms In The Multiple Fission Cell Cycle Of Chlamydomonas, Dianyi Liu

Dissertations

Size homeostasis is achieved by a balance between cell growth and cell division, but the underlying mechanisms are yet fully understood. Green alga Chlamydomonas reinhardtii (Chlamydomonas) is a unique model for size control. Instead of the canonical binary fission cell cycle, Chlamydomonas uses a multiple fission cell cycle where a prolonged G1 phase is followed by rapid alternative n rounds of S/M (DNA synthesis and mitosis) cycles to produce 2ⁿ daughter cells. Two size checkpoints show size-dependence: the Commitment checkpoint governs a minimum size for a cell to divide at least once, and the S/M checkpoint governs the division …

Identification Of Quantitative Trait Loci (Qtls) For Resistance To Bacterial Leaf Streak: Xanthomonas Translucens Using Qtl And Association Mapping In Three Populations Of Soft Red Winter Wheat, Benjamin Tyler Meritt

LSU Doctoral Dissertations

Bacterial leaf streak (BLS) and black chaff, caused by Xanthomonas translucens pv. undulosa (Xtu), can be a very destructive disease of wheat, especially in the warmer, wetter areas of the Southeastern U.S. Yield losses of up to 40 percent have been recorded in some cases in southern wheat growing regions. With no effective agronomic or chemical method of disease control, identification of genetic resistance is seen as a promising solution. Three soft red winter wheat populations (GAWN, ARK-SNP, and AGS 2060- AGS 2035 DH) representative of soft red winter wheat germplasm in the southeastern U.S. developed by …

Temporal Trends In Lipoprotein(A) Concentrations: The Atherosclerosis Risk In Communities Study, Matthew R. Deshotels, Caroline Sun, Vijay Nambi, Salim S. Virani, Kunihiro Matsushita, Bing Yu, Christie . M. Ballantyne, Ron C. Hoogeveen

Office of the Provost

Background: Plasma lipoprotein(a) (Lp[a]) concentrations are primarily determined by genetic factors and are believed to remain stable throughout life. However, data are scarce on longitudinal trends in Lp(a) concentrations over time. Therefore, it is unclear whether measurement of Lp(a) once in a person's life is sufficient for cardiovascular risk assessment in all adults.
Methods and Results: Lp(a) concentrations, specifically apolipoprotein(a) concentrations, were measured at visits 4 and 5, ≈15 years apart, in 4734 adult participants of the ARIC (Atherosclerosis Risk in Communities) study (mean age at visits 4 and 5, 60.7±5.1 and 75.5±5.2 years, respectively). Participants were categorized by baseline …

The Effect Of Corn Silage Hybrid And Inclusion On Performance Of Finishing Steers And Silage Hybrid Effects On Digestibility And Performance Of Growing Steers, F. Henry Hilscher, Curt J. Bittner, Jana L. Gramkow, Melissa L. Jollyy-Breithaupt, Mitch M. Norman, Hannah C. Wilson, Andrea K. Watson, James C. Macdonald, John N. Anderson, Galen E. Erickson

Department of Animal Science: Faculty Publications

Three experiments evaluated the effects of three corn silage hybrids, inclusion, and nutrient digestibility in growing and finishing diets. The three hybrids tested included a control (CON), a hybrid containing a brown midrib (bm3) trait (BM3), and an experimental bm3 hybrid with the soft endosperm trait (BM3-SOFT). Experiment 1 utilized 360 crossbred steers (body weight [BW] = 334; SD = 25 kg) to evaluate inclusion of silage in a finishing diet at (15% or 45% of diet dry matter [DM]) and silage hybrid (CON, BM3, or BM3-SOFT). Experiment 2 and 3 utilized 216 crossbred steers (BW = 324; SD = …

A Multi-Omics Framework Reveals Strawberry Flavor Genes And Their Regulatory Elements, Zhen Fan, Denise M Tieman, Steven J Knapp, Philipp Zerbe, Randi Famula, Christopher R Barbey, Kevin M Folta, Rodrigo R Amadeu, Manbo Lee, Youngjae Oh, Seonghee Lee, Vance M Whitaker

Faculty, Staff and Student Publications

Flavor is essential to consumer preference of foods and is an increasing focus of plant breeding programs. In fruit crops, identifying genes underlying volatile organic compounds has great promise to accelerate flavor improvement, but polyploidy and heterozygosity in many species have slowed progress. Here we use octoploid cultivated strawberry to demonstrate how genomic heterozygosity, transcriptomic intricacy and fruit metabolomic diversity can be treated as strengths and leveraged to uncover fruit flavor genes and their regulatory elements. Multi-omics datasets were generated including an expression quantitative trait loci map with 196 diverse breeding lines, haplotype-phased genomes of a highly-flavored breeding selection, a …

Successful Use Of Continuous Erector Spinae Plane Blocks In A Patient With Variant Angina After Large Ventral Hernia Repair, Alexandra L Belfar, Yi Deng, Raymond C Yu, Annas Sabbagh

Faculty, Staff and Students Publications

Coronary artery spasm constitutes the primary underlying pathology of variant angina. Because provocation of coronary artery spasm may occur with both excess sympathetic and excess parasympathetic stimulation, patients with this disorder have extremely limited options for perioperative pain control. This is especially true for procedures involving extensive abdominal incision/manipulation. Whereas neuraxial analgesia might otherwise be appropriate in these cases, several studies have demonstrated that coronary artery spasm can occur as a result of epidural placement, and therefore, that this may not be an optimal choice for patients with variant angina. This report discusses the case of a patient with a …

Lord Of The Z-Rings: Uncovering The Role Of Mraz And Ftsl In Bacillus Subtilis Cell Division, Maria Louise White

USF Tampa Graduate Theses and Dissertations

Cell division is a complex and highly orchestrated process that requires careful coordination. The process of cell division in prokaryotes primarily occurs via binary fission, where one mother cell becomes two genetically identically and equally sized daughter cells. In most bacteria a key protein, FtsZ, forms a FtsZ ring (Z-ring) to mark the division site and recruit proteins involved in cytokinesis. Whilst much has been learned about the contents and assembly of the divisome in model organisms such as Escherichia coli and Bacillus subtilis factors governing the regulation of divisome are much more poorly understood. …

Identification And Characterization Of Epicuticular Proteins Of Nematodes Sharing Motifs With Cuticular Proteins Of Arthropods, Bruno Betschart, Marco Bisoffi, Ferial Alaeddine

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Specific collagens and insoluble proteins called cuticlins are major constituents of the nematode cuticles. The epicuticle, which forms the outermost electron-dense layer of the cuticle, is composed of another category of insoluble proteins called epicuticlins. It is distinct from the insoluble cuticlins localized in the cortical layer and the fibrous ribbon underneath lateral alae. Our objective was to identify and characterize genes and their encoded proteins forming the epicuticle. The combination between previously obtained laboratory results and recently made available data through the whole-genome shotgun contigs (WGS) and the transcriptome Shotgun Assembly (TSA) sequencing projects of Ascaris suum allowed us …

Rescue Of Deficits By Brwd1 Copy Number Restoration In The Ts65dn Mouse Model Of Down Syndrome, Sasha L. Fulton, Wendy Wenderski, Ashley E. Lepack, Andrew L. Eagle, Tomas Fanutza, Ryan M. Bastle, Aarthi Ramakrishnan, Emma C. Hays, Arianna Neal, Jaroslav Bendl, Lorna A. Farrelly, Amni Al-Kachak, Yang Lyu, Bulent Cetin, Jennifer C. Chan, Tina N. Tran, Rachael L. Neve, Randall J. Roper, Kristen J. Brennand, Panos Roussos, John C. Schimenti, Allyson K. Friedman, Li Shen, Robert D. Blitzer, Alfred J. Robison, Gerald R. Crabtree, Ian Maze

Publications and Research

With an incidence of ~1 in 800 births, Down syndrome (DS) is the most com- mon chromosomal condition linked to intellectual disability worldwide. While the genetic basis of DS has been identified as a triplication of chromosome 21 (HSA21), the genes encoded from HSA 21 that directly contribute to cognitive de fi cits remain incompletely understood. Here, we found that the HSA21- encoded chromatin effector, BRWD1, was upregulated in neurons derived from iPS cells from an individual with Down syndrome and brain of trisomic mice. We showed that selective copy number restoration of Brwd1 in trisomic animals rescued de fi …

Design And Development Of A Broiler Mortality Removal Robot, Guoming Li, Gary Daniel Chesser, Joseph L. Purswell, Christopher L. Magee, Richard S. Gates, Yijie Xiong

Department of Animal Science: Faculty Publications

Manual collection of broiler mortality is time-consuming, unpleasant, and laborious. The objectives of this research were: (1) to design and fabricate a broiler mortality removal robot from commercially available components to automatically collect dead birds; (2) to compare and evaluate deep learning models and image processing algorithms for detecting and locating dead birds; and (3) to examine detection and mortality pickup performance of the robot under different light intensities. The robot consisted of a two-finger gripper, a robot arm, a camera mounted on the robot’s arm, and a computer controller. The robot arm was mounted on a table, and 64 …

Radiation Exposure Determination In A Secure, Cloud-Based Online Environment, Ben C. Shirley, Eliseos J. Mucaki, Peter Rogan

Biochemistry Publications

Rapid sample processing and interpretation of estimated exposures will be critical for triaging exposed individuals after a major radiation incident. The dicentric chromosome (DC) assay assesses absorbed radiation using metaphase cells from blood. The Automated Dicentric Chromosome Identifier and Dose Estimator System (ADCI) identifies DCs and determines radiation doses. This study aimed to broaden accessibility and speed of this system, while protecting data and software integrity. ADCI Online is a secure web-streaming platform accessible worldwide from local servers. Cloud-based systems containing data and software are separated until they are linked for radiation exposure estimation. Dose estimates are identical to ADCI …

Scgwas: Landscape Of Trait-Cell Type Associations By Integrating Single-Cell Transcriptomics-Wide And Genome-Wide Association Studies, Peilin Jia, Ruifeng Hu, Fangfang Yan, Yulin Dai, Zhongming Zhao

Faculty, Staff and Student Publications

BACKGROUND: The rapid accumulation of single-cell RNA sequencing (scRNA-seq) data presents unique opportunities to decode the genetically mediated cell-type specificity in complex diseases. Here, we develop a new method, scGWAS, which effectively leverages scRNA-seq data to achieve two goals: (1) to infer the cell types in which the disease-associated genes manifest and (2) to construct cellular modules which imply disease-specific activation of different processes.

RESULTS: scGWAS only utilizes the average gene expression for each cell type followed by virtual search processes to construct the null distributions of module scores, making it scalable to large scRNA-seq datasets. We demonstrated scGWAS in …