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Gene expression

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Full-Text Articles in Physical Sciences and Mathematics

Molecular Approaches In The Analysis Of Red Clover Rhizobium Symbiosis, Randy D. Dinkins, L. Koch, M. L. Sullivan, H. Zhu Jan 2024

Molecular Approaches In The Analysis Of Red Clover Rhizobium Symbiosis, Randy D. Dinkins, L. Koch, M. L. Sullivan, H. Zhu

IGC Proceedings (1997-2023)

Red clover (Trifolium pratense L.) is an important forage and pasture legume grown throughout temperate regions. Because it can form a symbiotic relationship with rhizobium, it is able to fix atmospheric nitrogen. Due to the high cost of nitrogen fertilizers, pasture legumes have been increasingly important in forage production settings. Red clover has not been a model legume primarily due to selfincompatibility and the associated high level of genomic heterozygosity, therefore it has not been a significant contributor in molecular or genetic studies and basic information on red clover legume/rhizobium symbiosis is lacking. Using recently annotated genomic resources, RNA-seq …


Complex Dynamics Of Coral Gene Expression Responses To Low Ph Across Species, Veronica Z. Radice, Ana Martinez, Adina Paytan, Donald C. Potts, Daniel J. Barshis Jan 2024

Complex Dynamics Of Coral Gene Expression Responses To Low Ph Across Species, Veronica Z. Radice, Ana Martinez, Adina Paytan, Donald C. Potts, Daniel J. Barshis

Biological Sciences Faculty Publications

Coral capacity to tolerate low pH affects coral community composition and, ultimately, reef ecosystem function. Low pH submarine discharges (‘Ojo’; Yucatán, México) represent a natural laboratory to study plasticity and acclimatization to low pH in relation to ocean acidification. A previous >2‐year coral transplant experiment to ambient and low pH common garden sites revealed differential survivorship across species and sites, providing a framework to compare mechanistic responses to differential pH exposures. Here, we examined gene expression responses of transplants of three species of reef‐building corals (Porites astreoides, Porites porites and Siderastrea siderea) and their algal endosymbiont communities …


Modeling Nonsegmented Negative-Strand Rna Virus (Nnsv) Transcription With Ejective Polymerase Collisions And Biased Diffusion, Felipe-Andres Piedra Sep 2023

Modeling Nonsegmented Negative-Strand Rna Virus (Nnsv) Transcription With Ejective Polymerase Collisions And Biased Diffusion, Felipe-Andres Piedra

Research Symposium

Background: The textbook model of NNSV transcription predicts a gene expression gradient. However, multiple studies show non-gradient gene expression patterns or data inconsistent with a simple gradient. Regarding the latter, several studies show a dramatic decrease in gene expression over the last two genes of the respiratory syncytial virus (RSV) genome (a highly studied NNSV). The textbook model cannot explain these phenomena.

Methods: Computational models of RSV and vesicular stomatitis virus (VSV – another highly studied NNSV) transcription were written in the Python programming language using the Scientific Python Development Environment. The model code is freely available on GitHub: …


Light Intensity Is Positively Correlated With The Synthesis Of Condensed Tannins In Lotus Corniculatus, Sergio Arcioni, T. Bovone, F. Damiani, F. Paolocci May 2023

Light Intensity Is Positively Correlated With The Synthesis Of Condensed Tannins In Lotus Corniculatus, Sergio Arcioni, T. Bovone, F. Damiani, F. Paolocci

IGC Proceedings (1997-2023)

The importance of Condensed Tannins (CT) in forage legumes has been well documented in several studies. The role of plant genetics in this field is the acquisition of competences in order to be able to modulate CT synthesis in leaves of these species. The role of light has been investigated in this work on the increase of condensed tannin levels in leaves of two contrasting genotypes of birdsfoot trefoil (Lotus corniculatus).


Physiological And Transcriptomic Responses Of Two Artemisia Californica Populations To Drought: Implications For Restoring Drought-Resilient Native Communities, Hagop S. Atamian Dr., Jennifer L. Funk Apr 2023

Physiological And Transcriptomic Responses Of Two Artemisia Californica Populations To Drought: Implications For Restoring Drought-Resilient Native Communities, Hagop S. Atamian Dr., Jennifer L. Funk

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

As climate change brings drier and more variable rainfall patterns to many arid and semi-arid regions, land managers must re-assemble appropriate plant communities for these conditions. Transcriptome sequencing can elucidate the molecular mechanisms underlying plant responses to changing environmental conditions, potentially enhancing our ability to screen suitable genotypes and species for restoration. We examined physiological and morphological traits and transcriptome sequences of coastal and inland populations of California sagebrush (Artemisia californica), a critical shrub used to restore coastal sage scrub vegetation communities, grown under low and high rainfall environments. The populations are located approximately 36 km apart but …


The Investigation Of Flowering Control In Late/Rare Flowering Lolium Perenne, S. Byrne, I. S. Donnison, L. J. Mur, E. Guiney Mar 2023

The Investigation Of Flowering Control In Late/Rare Flowering Lolium Perenne, S. Byrne, I. S. Donnison, L. J. Mur, E. Guiney

IGC Proceedings (1997-2023)

Flowering in Lolium perenne (perennial ryegrass) results in reduced digestibility and its inhibition would enhance forage quality. Flowering regulation has been well studied in Arabidopsis thaliana (Simpson and Dean, 2002) and orthologs of Arabidopsis flowering genes underlying heading date Quantitative Trait Loci (QTL) have been identified in rice (Yano, M et al., 2000). However it is not clear yet how universally applicable such studies are to Lolium. The project goals are to characterise the gene expression profiles of late/rare flowering L. perenne plants to determine factors affecting flowering and to map the genes involved in the flowering process. Initial …


Cytotoxicity And Reproductive Impairment In Rainbow Trout Cell Lines Exposed To Microcystis Aeruginosa Extracellular Metabolites, Keira Harshaw Jan 2023

Cytotoxicity And Reproductive Impairment In Rainbow Trout Cell Lines Exposed To Microcystis Aeruginosa Extracellular Metabolites, Keira Harshaw

Electronic Theses and Dissertations

Current trends in cyanobacterial harmful algal blooms (cHABs) demonstrate increasing risks to human health and the health of aquatic ecosystems around the globe. Expansion of algal blooms, both geographically and temporally, serve to place increasing numbers of freshwater species, including fish, in peril. Microcystis aeruginosa, one of the most common species of bloom-causing cyanobacteria, is capable of producing a vast diversity of biologically active compounds, however Microcystis studies are often dominated by microcystins. How non-microcystin metabolites contribute to Microcystis toxicity, particularly in freshwater fish, has been the subject of a limited, but growing, body of research. To contribute to …


Multivariate Statistical Modeling For Radio-Genomics Study, Tiantian Zeng Jan 2022

Multivariate Statistical Modeling For Radio-Genomics Study, Tiantian Zeng

Theses and Dissertations--Statistics

Radiogenomics is a new direction in cancer research that focuses on the associations among radiomics, genomics and clinical outcome. Currently, the major challenge for Radiogenomics lies in the effective integration of genomics and imaging data for promising clinical outcome prediction. Herein, we propose a multivariate joint model that can integrate imaging and genomic data for better predicting the clinical outcome. Specifically, we jointly consider two multivariate group lasso models, one regresses imaging features on genomic features, and the other regresses patient’s clinical outcome on genomic features. An L1 penalty term is introduced for each variable, and weight in the penalty …


Biological Interactions In Grassland Soils And Productivity, R. Cook, R. D. Bardgett, W. R. Eason, L. Skøt, K. J. Webb Sep 2021

Biological Interactions In Grassland Soils And Productivity, R. Cook, R. D. Bardgett, W. R. Eason, L. Skøt, K. J. Webb

IGC Proceedings (1997-2023)

This paper describes research on interactions between grassland plant species and soil microorganisms. Both parasitic and symbiotic microorganisms modify nutrient transfers between plants and soil. Experiments are described in which nematode infection of clover increased nitrogen transfer to companion ryegrass plants. Infection of clover enhanced activity of soil bacterial and fungal communities. Legume genotypes differing only in responses to symbionts (rhizobium and arbuscular mycorrhizal fungi) and pathogens are being developed for studies of gene expression during establishing and functional symbioses. Such plants can be used in experiments as defined perturbations that will provide information on the interactions and functions of …


Physiological And Molecular Responses Of Eurythermal And Stenothermal Populations Of Zostera Marina L (Eelgrass) To Climate Change, Carmen C. Zayas-Santiago Jul 2021

Physiological And Molecular Responses Of Eurythermal And Stenothermal Populations Of Zostera Marina L (Eelgrass) To Climate Change, Carmen C. Zayas-Santiago

OES Theses and Dissertations

As CO2 levels in Earth’s atmosphere and oceans steadily rise, varying organismal responses may produce ecological losers and winners. Increased ocean CO2 can enhance seagrass productivity and thermal tolerance, providing some compensation for climate warming. However, the consistency of this CO2 effect across populations of cosmopolitan species such as Zostera marina L. (eelgrass) remains largely unknown. This study analyzed whole-plant performance metabolic profiles and gene expression patterns of distinct eelgrass populations in response to CO2 enrichment. Populations were transplanted from Nisqually Landing and Dumas Bay, two cold water environments in Puget Sound, WA (USA) that rarely …


Elevated Atmospheric Co2 Concentration Triggers Redistribution Of Nitrogen To Promote Tillering In Rice, Juan Zhou, Yingbo Gao, Junpeng Wang, Chang Liu, Zi Wang, Minjia Lv, Xiaoxiang Zhang, Yong Zhou, Guichun Dong, Yulong Wang, Jianye Huang, Dafeng Hui, Zefeng Yang, Youli Yao May 2021

Elevated Atmospheric Co2 Concentration Triggers Redistribution Of Nitrogen To Promote Tillering In Rice, Juan Zhou, Yingbo Gao, Junpeng Wang, Chang Liu, Zi Wang, Minjia Lv, Xiaoxiang Zhang, Yong Zhou, Guichun Dong, Yulong Wang, Jianye Huang, Dafeng Hui, Zefeng Yang, Youli Yao

Biology Faculty Research

Elevated atmospheric CO2 concentration (eCO2) often reduces nitrogen (N) content in rice plants and stimulates tillering. However, there is a general consensus that reduced N would constrain rice tillering. To resolve this contradiction, we investigated N distribution and transcriptomic changes in different rice plant organs after subjecting them to eCO2 and different N application rates. Our results showed that eCO2 significantly promoted rice tillers (by 0.6, 1.1, 1.7, and 2.1 tillers/plant at 0, 75, 150, and 225 kg N ha−1 N application rates, respectively) and more tillers were produced under higher N application rates, …


Low‐Temperature Tolerance Related Cbf And Fructosyltrans Ferase Genes In Forage Grasses, H. Hisano, K. Tamura, M. Yoshida, A. Kanazawa, T. Yamada Mar 2021

Low‐Temperature Tolerance Related Cbf And Fructosyltrans Ferase Genes In Forage Grasses, H. Hisano, K. Tamura, M. Yoshida, A. Kanazawa, T. Yamada

IGC Proceedings (1997-2023)

No abstract provided.


Fast And Pervasive Transcriptomic Resilience And Acclimation Of Extremely Heat-Tolerant Coral Holobionts From The Northern Red Sea, Romain Savary, Daniel J. Barshis, Christian R. Voolstra, Anny Cárdenas, Nicolas R. Evensen, Guilhem Banc-Prandi, Maoz Fine, Anders Meiborn Jan 2021

Fast And Pervasive Transcriptomic Resilience And Acclimation Of Extremely Heat-Tolerant Coral Holobionts From The Northern Red Sea, Romain Savary, Daniel J. Barshis, Christian R. Voolstra, Anny Cárdenas, Nicolas R. Evensen, Guilhem Banc-Prandi, Maoz Fine, Anders Meiborn

Biological Sciences Faculty Publications

Corals from the northern Red Sea and Gulf of Aqaba exhibit extreme thermal tolerance. To examine the underlying gene expression dynamics, we exposed Stylophora pistillata from the Gulf of Aqaba to short-term (hours) and long-term (weeks) heat stress with peak seawater temperatures ranging from their maximum monthly mean of 27 °C (baseline) to 29.5 °C, 32 °C, and 34.5 °C. Corals were sampled at the end of the heat stress as well as after a recovery period at baseline temperature. Changes in coral host and symbiotic algal gene expression were determined via RNA-sequencing (RNA-Seq). Shifts in coral microbiome composition were …


Statistical Approaches Of Gene Set Analysis With Quantitative Trait Loci For High-Throughput Genomic Studies., Samarendra Das Dec 2020

Statistical Approaches Of Gene Set Analysis With Quantitative Trait Loci For High-Throughput Genomic Studies., Samarendra Das

Electronic Theses and Dissertations

Recently, gene set analysis has become the first choice for gaining insights into the underlying complex biology of diseases through high-throughput genomic studies, such as Microarrays, bulk RNA-Sequencing, single cell RNA-Sequencing, etc. It also reduces the complexity of statistical analysis and enhances the explanatory power of the obtained results. Further, the statistical structure and steps common to these approaches have not yet been comprehensively discussed, which limits their utility. Hence, a comprehensive overview of the available gene set analysis approaches used for different high-throughput genomic studies is provided. The analysis of gene sets is usually carried out based on …


Estimation And Testing Of Gene Expression Heterosis, Tieming Ji, Peng Liu, Dan Nettleton Jun 2019

Estimation And Testing Of Gene Expression Heterosis, Tieming Ji, Peng Liu, Dan Nettleton

Dan Nettleton

Heterosis, also known as the hybrid vigor, occurs when the mean phenotype of hybrid offspring is superior to that of its two inbred parents. The heterosis phenomenon is extensively utilized in agriculture though the molecular basis is still unknown. In an effort to understand phenotypic heterosis at the molecular level, researchers have begun to compare expression levels of thousands of genes between parental inbred lines and their hybrid offspring to search for evidence of gene expression heterosis. Standard statistical approaches for separately analyzing expression data for each gene can produce biased and highly variable estimates and unreliable tests of heterosis. …


Substantial Contribution Of Genetic Variation In The Expression Of Transcription Factors To Phenotypic Variation Revealed By Erd-Gwas, Hung-Ying Lin, Qiang Liu, Xiao Li, Jinliang Yang, Sanzhen Liu, Yinlian Huang, Michael J. Scanlon, Dan Nettleton, Patrick S. Schnable Jun 2019

Substantial Contribution Of Genetic Variation In The Expression Of Transcription Factors To Phenotypic Variation Revealed By Erd-Gwas, Hung-Ying Lin, Qiang Liu, Xiao Li, Jinliang Yang, Sanzhen Liu, Yinlian Huang, Michael J. Scanlon, Dan Nettleton, Patrick S. Schnable

Dan Nettleton

Background: There are significant limitations in existing methods for the genome-wide identification of genes whose expression patterns affect traits.

Results: The transcriptomes of five tissues from 27 genetically diverse maize inbred lines were deeply sequenced to identify genes exhibiting high and low levels of expression variation across tissues or genotypes. Transcription factors are enriched among genes with the most variation in expression across tissues, as well as among genes with higher-than-median levels of variation in expression across genotypes. In contrast, transcription factors are depleted among genes whose expression is either highly stable or highly variable across genotypes. We developed a …


Decrypting Female Attractivity In Garter Snakes, Holly Rucker May 2019

Decrypting Female Attractivity In Garter Snakes, Holly Rucker

Senior Honors Projects, 2010-2019

Pheromones are utilized by many species as sexual signals driving mate choice, and pheromone production in vertebrates hinges on sex hormone action. Female red-sided garter snakes (Thamnophis sirtalis parietalis) produce a skin-based sex pheromone used by males for mate detection and selection. Estradiol is necessary for pheromone production, yet the specific mechanisms within the skin are unknown. Central to this is the metabolism of testosterone to estradiol via the enzyme aromatase. It is hypothesized that female garter snakes synthesize estradiol locally in the skin and maintain pheromone production via tissue-specific regulation of aromatase. Further, I hypothesize that female …


Feature Selection For Longitudinal Data By Using Sign Averages To Summarize Gene Expression Values Over Time, Suyan Tian, Chi Wang Mar 2019

Feature Selection For Longitudinal Data By Using Sign Averages To Summarize Gene Expression Values Over Time, Suyan Tian, Chi Wang

Biostatistics Faculty Publications

With the rapid evolution of high-throughput technologies, time series/longitudinal high-throughput experiments have become possible and affordable. However, the development of statistical methods dealing with gene expression profiles across time points has not kept up with the explosion of such data. The feature selection process is of critical importance for longitudinal microarray data. In this study, we proposed aggregating a gene’s expression values across time into a single value using the sign average method, thereby degrading a longitudinal feature selection process into a classic one. Regularized logistic regression models with pseudogenes (i.e., the sign average of genes across time as predictors) …


Region Based Gene Expression Via Reanalysis Of Publicly Available Microarray Data Sets., Ernur Saka May 2018

Region Based Gene Expression Via Reanalysis Of Publicly Available Microarray Data Sets., Ernur Saka

Electronic Theses and Dissertations

A DNA microarray is a high-throughput technology used to identify relative gene expression. One of the most widely used platforms is the Affymetrix® GeneChip® technology which detects gene expression levels based on probe sets composed of a set of twenty-five nucleotide probes designed to hybridize with specific gene targets. Given a particular Affymetrix® GeneChip® platform, the design of the probes is fixed. However, the method of analysis is dynamic in nature due to the ability to annotate and group probes into uniquely defined groupings. This is particularly important since publicly available repositories of microarray datasets, such as ArrayExpress and NCBI’s …


Expression Of Wnt-Signaling Pathway Genes And Their Associations With Mirnas In Colorectal Cancer, Martha L. Slattery, Lila E. Mullany, Lori C. Sakoda, Wade S. Samowitz, Roger K. Wolff, John R. Stevens, Jennifer S. Herrick Dec 2017

Expression Of Wnt-Signaling Pathway Genes And Their Associations With Mirnas In Colorectal Cancer, Martha L. Slattery, Lila E. Mullany, Lori C. Sakoda, Wade S. Samowitz, Roger K. Wolff, John R. Stevens, Jennifer S. Herrick

Mathematics and Statistics Faculty Publications

The Wnt-signaling pathway functions in regulating cell growth and thus is involved in the carcinogenic process of several cancers, including colorectal cancer. We tested the hypothesis that multiple genes in this signaling pathway are dysregulated and that miRNAs are associated with these dysregulated genes. We used data from 217 colorectal cancer (CRC) cases to evaluate differences in Wnt-signaling pathway gene expression between paired CRC and normal mucosa and identify miRNAs that are associated with these genes. Gene expression data from RNA-Seq and miRNA expression data from Agilent Human miRNA Microarray V19.0 were analyzed. We focused on genes most strongly associated …


Use Of Hpc To Analyze Changes In Gene Expression During Fruit Fly Spermiogenesis, Sepideh Dadkhah, Douglas A. Harrison, Jeramiah J. Smith Oct 2017

Use Of Hpc To Analyze Changes In Gene Expression During Fruit Fly Spermiogenesis, Sepideh Dadkhah, Douglas A. Harrison, Jeramiah J. Smith

Commonwealth Computational Summit

In the fruit fly, Drosophila melanogaster, JAK/STAT signaling during spermiogenesis is known to play a crucial role in the maintenance of stem cells of the testis. Recent studies in our lab have shown that activation of the JAK/STAT pathway in somatic cyst cells is also required for the later stages of spermiogenesis like individualization.

The main goal of this project is to characterize the events downstream of JAK/STAT signaling in spermiogenesis and more specifically to determine the mechanism by which JAK/STAT activation regulates individualization, a later stage in spermiogenesis where 64 individual spermatids are formed from a 64-interconnected spermatid …


Fruit Weight Is Controlled By Cell Size Regulator Encoding A Novel Protein That Is Expressed In Maturing Tomato Fruits, Qi Mu, Zejun Huang, Manohar Chakrabarti, Eudald Illa-Berenguer, Xiaoxi Liu, Yanping Wang, Alexis Ramos, Esther Van Der Knaap Aug 2017

Fruit Weight Is Controlled By Cell Size Regulator Encoding A Novel Protein That Is Expressed In Maturing Tomato Fruits, Qi Mu, Zejun Huang, Manohar Chakrabarti, Eudald Illa-Berenguer, Xiaoxi Liu, Yanping Wang, Alexis Ramos, Esther Van Der Knaap

Plant and Soil Sciences Faculty Publications

Increases in fruit weight of cultivated vegetables and fruits accompanied the domestication of these crops. Here we report on the positional cloning of a quantitative trait locus (QTL) controlling fruit weight in tomato. The derived allele of Cell Size Regulator (CSR-D) increases fruit weight predominantly through enlargement of the pericarp areas. The expanded pericarp tissues result from increased mesocarp cell size and not from increased number of cell layers. The effect of CSR on fruit weight and cell size is found across different genetic backgrounds implying a consistent impact of the locus on the trait. In fruits, CSR …


Statistical Methods For Two Problems In Cancer Research: Analysis Of Rna-Seq Data From Archival Samples And Characterization Of Onset Of Multiple Primary Cancers, Jialu Li May 2017

Statistical Methods For Two Problems In Cancer Research: Analysis Of Rna-Seq Data From Archival Samples And Characterization Of Onset Of Multiple Primary Cancers, Jialu Li

Dissertations & Theses (Open Access)

My dissertation is focused on quantitative methodology development and application for two important topics in translational and clinical cancer research.

The first topic was motivated by the challenge of applying transcriptome sequencing (RNA-seq) to formalin-fixation and paraffin-embedding (FFPE) tumor samples for reliable diagnostic development. We designed a biospecimen study to directly compare gene expression results from different protocols to prepare libraries for RNA-seq from human breast cancer tissues, with randomization to fresh-frozen (FF) or FFPE conditions. To comprehensively evaluate the FFPE RNA-seq data quality for expression profiling, we developed multiple computational methods for assessment, such as the uniformity and continuity …


Comparative Transcriptomic Analysis Of Two Brassica Napus Near-Isogenic Lines Reveals A Network Of Genes That Influences Seed Oil Accumulation, Jingxue Wang, Sanjay Kumar Singh, Chunfang Du, Chen Li, Jianchun Fan, Sitakanta Pattanaik, Ling Yuan Sep 2016

Comparative Transcriptomic Analysis Of Two Brassica Napus Near-Isogenic Lines Reveals A Network Of Genes That Influences Seed Oil Accumulation, Jingxue Wang, Sanjay Kumar Singh, Chunfang Du, Chen Li, Jianchun Fan, Sitakanta Pattanaik, Ling Yuan

Plant and Soil Sciences Faculty Publications

Rapeseed (Brassica napus) is an important oil seed crop, providing more than 13% of the world’s supply of edible oils. An in-depth knowledge of the gene network involved in biosynthesis and accumulation of seed oil is critical for the improvement of B. napus. Using available genomic and transcriptomic resources, we identified 1,750 acyl-lipid metabolism (ALM) genes that are distributed over 19 chromosomes in the B. napus genome. B. rapa and B. oleracea, two diploid progenitors of B. napus, contributed almost equally to the ALM genes. Genome collinearity analysis demonstrated that the majority of the …


A Gene-Based Association Method For Mapping Traits Using Reference Transcriptome Data, Eric R. Gamazon, Heather Wheeler, Kaanan P. Shah, Sahar V. Mozaffari, Keston Aquino-Michaels, Robert J. Carroll, Anne E. Eyler, Joshua C. Denny, Dan L. Nicolae, Nancy J. Cox, Hae Kyung Im Aug 2016

A Gene-Based Association Method For Mapping Traits Using Reference Transcriptome Data, Eric R. Gamazon, Heather Wheeler, Kaanan P. Shah, Sahar V. Mozaffari, Keston Aquino-Michaels, Robert J. Carroll, Anne E. Eyler, Joshua C. Denny, Dan L. Nicolae, Nancy J. Cox, Hae Kyung Im

Heather Wheeler

Genome-wide association studies (GWAS) have identified thousands of variants robustly associated with complex traits. However, the biological mechanisms underlying these associations are, in general, not well understood. We propose a gene-based association method called PrediXcan that directly tests the molecular mechanisms through which genetic variation affects phenotype. The approach estimates the component of gene expression determined by an individual’s genetic profile and correlates ‘imputed’ gene expression with the phenotype under investigation to identify genes involved in the etiology of the phenotype. Genetically regulated gene expression is estimated using whole-genome tissue-dependent prediction models trained with reference transcriptome data sets. PrediXcan enjoys …


A Gene-Based Association Method For Mapping Traits Using Reference Transcriptome Data, Eric R. Gamazon, Heather Wheeler, Kaanan P. Shah, Sahar V. Mozaffari, Keston Aquino-Michaels, Robert J. Carroll, Anne E. Eyler, Joshua C. Denny, Gtex Consortium, Dan L. Nicolae, Nancy J. Cox, Hae Kyung Im Sep 2015

A Gene-Based Association Method For Mapping Traits Using Reference Transcriptome Data, Eric R. Gamazon, Heather Wheeler, Kaanan P. Shah, Sahar V. Mozaffari, Keston Aquino-Michaels, Robert J. Carroll, Anne E. Eyler, Joshua C. Denny, Gtex Consortium, Dan L. Nicolae, Nancy J. Cox, Hae Kyung Im

Bioinformatics Faculty Publications

Genome-wide association studies (GWAS) have identified thousands of variants robustly associated with complex traits. However, the biological mechanisms underlying these associations are, in general, not well understood. We propose a gene-based association method called PrediXcan that directly tests the molecular mechanisms through which genetic variation affects phenotype. The approach estimates the component of gene expression determined by an individual’s genetic profile and correlates ‘imputed’ gene expression with the phenotype under investigation to identify genes involved in the etiology of the phenotype. Genetically regulated gene expression is estimated using whole-genome tissue-dependent prediction models trained with reference transcriptome data sets. PrediXcan enjoys …


Annotation Tools For Multivariate Gene Set Testing Of Non-Model Organisms, Russell K. Banks May 2015

Annotation Tools For Multivariate Gene Set Testing Of Non-Model Organisms, Russell K. Banks

All Graduate Theses and Dissertations, Spring 1920 to Summer 2023

Microarray chip technology enables researchers to obtain measures of gene activity for essentially all genes in an organism. After grouping genes into biologically meaningful sets, researchers employ certain statistical tests to identify which gene sets (biological processes) show different levels of activity across different treatment groups. The idea is to identify which biological processes are significantly affected by a certain treatment/condition in a given organism.

Non-model organisms (such as sheep) are not widely studied so gene set membership information is not always readily accessible. This thesis work utilizes two microarray studies involving sheep to provide researchers with working examples of …


High-Throughput Data Analysis: Application To Micronuclei Frequency And T-Cell Receptor Sequencing, Mateusz Makowski Jan 2015

High-Throughput Data Analysis: Application To Micronuclei Frequency And T-Cell Receptor Sequencing, Mateusz Makowski

Theses and Dissertations

The advent of high-throughput sequencing has brought about the creation of an unprecedented amount of research data. Analytical methodology has not been able to keep pace with the plethora of data being produced. Two assays, ImmunoSEQ and the cytokinesisblock micronucleus (CBMN), that both produce count data and have few methods available to analyze them are considered.

ImmunoSEQ is a sequencing assay that measures the beta T-cell receptor (TCR) repertoire. The ImmunoSEQ assay was used to describe the TCR repertoires of patients that have undergone hematopoietic stem cell transplantation (HSCT). Several different methods for spectratype analysis were extended to the TCR …


Computational Analysis Of Gene Expression And Connectivity Patterns In The Convoluted Structures Of Mouse Cerebellum, Tao Zeng Jun 2014

Computational Analysis Of Gene Expression And Connectivity Patterns In The Convoluted Structures Of Mouse Cerebellum, Tao Zeng

Computer Science Theses & Dissertations

One significant difference between evolved mammalian brains and other species is that mammalian brains exhibit increasingly convoluted structures in the cerebral cortex. Groove and ridge shaped structures named gyri and sulci expand surface area of cerebral cortex, making more functions possible. Prior studies using neuroimaging techniques such as dMRI and DTI have revealed that neural fibers are heavily connected to gyri comparing to those connected to sulci, such macro-scale experiments indicates that gyri are involved in large scale information processing while sulci process information locally. However, molecular and cellar level evidences, namely, gene expression pattern and its resulting neuronal connectivity …


Inter-And Intra-Population Variability Across The Transcriptome Of Lake Baikal’S Endemic Copepod With Ramifications For Adapting To Climate Change, Larry L. Bowman Jr May 2014

Inter-And Intra-Population Variability Across The Transcriptome Of Lake Baikal’S Endemic Copepod With Ramifications For Adapting To Climate Change, Larry L. Bowman Jr

Electronic Theses and Dissertations

The future of Lake Baikal’s biodiversity is uncertain in response to climate change. Unlike its diverse benthos, Lake Baikal’s zooplankton is species poor, with up to 96% of its biomass being composed of a single Calanoid copepod species, Epischura baikalensis. This study characterizes the genetic differentiation and differential gene expression of E. baikalensis. Using partial-transcriptome sequences obtained by 454 Rosche and Illumina sequencing technologies, the genetic differentiation at inferred single nucleotide polymorphism (SNP) sites and differential gene expression in populations sampled from various parts of the lake were analyzed. The functional genomics of genes showed significant differential …