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Gene Co-Expression Networks Analysis Reveal Novel Molecular Endotypes In Alpha-1 Antitrypsin Deficiency, Jen-hwa Chu, Wenlan Zang 2019 Yale University

Gene Co-Expression Networks Analysis Reveal Novel Molecular Endotypes In Alpha-1 Antitrypsin Deficiency, Jen-Hwa Chu, Wenlan Zang

Yale Day of Data

Rationale:Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that predisposes to early onset pulmonary emphysema and airways obstruction. The exact mechanism through which AATD leads to lung disease is incompletely understood.

Objectives: To investigate the effect of AAT genotype and augmentation therapy on bronchoalveolar lavage (BAL) and peripheral blood mononuclear cells (PBMC) transcriptome, while examining the link between gene expression profiles, and clinical features of AATD.

Methods: We performed RNA-Seq on RNA extracted from BAL and PBMC on samples obtained from 89 AATD patients enrolled in the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) study. Differential gene ...


A Novel Pathway-Based Distance Score Enhances Assessment Of Disease Heterogeneity In Gene Expression, Yunqing Liu, Xiting Yan 2019 Yale University School of Public Health

A Novel Pathway-Based Distance Score Enhances Assessment Of Disease Heterogeneity In Gene Expression, Yunqing Liu, Xiting Yan

Yale Day of Data

Distance-based unsupervised clustering of gene expression data is commonly used to identify heterogeneity in biologic samples. However, high noise levels in gene expression data and the relatively high correlation between genes are often encountered, so traditional distances such as Euclidean distance may not be effective at discriminating the biological differences between samples. In this study, we developed a novel computational method to assess the biological differences based on pathways by assuming that ontologically defined biological pathways in biologically similar samples have similar behavior. Application of this distance score results in more accurate, robust, and biologically meaningful clustering results in both ...


Debrowser: Interactive Differential Expression Analysis And Visualization Tool For Count Data, Alper Kucukural, Onur Yukselen, Deniz M. Ozata, Melissa J. Moore, Manuel Garber 2019 University of Massachusetts Medical School

Debrowser: Interactive Differential Expression Analysis And Visualization Tool For Count Data, Alper Kucukural, Onur Yukselen, Deniz M. Ozata, Melissa J. Moore, Manuel Garber

Program in Bioinformatics and Integrative Biology Publications and Presentations

BACKGROUND: Sequencing data has become a standard measure of diverse cellular activities. For example, gene expression is accurately measured by RNA sequencing (RNA-Seq) libraries, protein-DNA interactions are captured by chromatin immunoprecipitation sequencing (ChIP-Seq), protein-RNA interactions by crosslinking immunoprecipitation sequencing (CLIP-Seq) or RNA immunoprecipitation (RIP-Seq) sequencing, DNA accessibility by assay for transposase-accessible chromatin (ATAC-Seq), DNase or MNase sequencing libraries. The processing of these sequencing techniques involves library-specific approaches. However, in all cases, once the sequencing libraries are processed, the result is a count table specifying the estimated number of reads originating from each genomic locus. Differential analysis to determine which loci ...


Arabidopsis Bioinformatics Resources: The Current State, Challenges, And Priorities For The Future, Colleen Doherty, Justin Walley, Eve Wurtele, et al. 2019 North Carolina State University

Arabidopsis Bioinformatics Resources: The Current State, Challenges, And Priorities For The Future, Colleen Doherty, Justin Walley, Eve Wurtele, Et Al.

Genetics, Development and Cell Biology Publications

Effective research, education, and outreach efforts by the Arabidopsis thalianacommunity, as well as other scientific communities that depend on Arabidopsis resources, depend vitally on easily available and publicly‐shared resources. These resources include reference genome sequence data and an ever‐increasing number of diverse data sets and data types. TAIR (The Arabidopsis Information Resource) and Araport (originally named the Arabidopsis Information Portal) are community informatics resources that provide tools, data, and applications to the more than 30,000 researchers worldwide that use in their work either Arabidopsis as a primary system of study or data derived from Arabidopsis. Four ...


The Trim-Nhl Protein Nhl-2 Is A Co-Factor In The Nuclear And Somatic Rnai Pathways In C. Elegans, Gregory M. Davis, Shikui Tu, Jacqueline A. Wilce, Julie M. Claycomb, Zhiping Weng, Peter R. Boag 2018 Federation University

The Trim-Nhl Protein Nhl-2 Is A Co-Factor In The Nuclear And Somatic Rnai Pathways In C. Elegans, Gregory M. Davis, Shikui Tu, Jacqueline A. Wilce, Julie M. Claycomb, Zhiping Weng, Peter R. Boag

Program in Bioinformatics and Integrative Biology Publications and Presentations

Proper regulation of germline gene expression is essential for fertility and maintaining species integrity. In the C. elegans germline, a diverse repertoire of regulatory pathways promote the expression of endogenous germline genes and limit the expression of deleterious transcripts to maintain genome homeostasis. Here we show that the conserved TRIM-NHL protein, NHL-2, plays an essential role in the C. elegans germline, modulating germline chromatin and meiotic chromosome organization. We uncover a role for NHL-2 as a co-factor in both positively (CSR-1) and negatively (HRDE-1) acting germline 22G-small RNA pathways and the somatic nuclear RNAi pathway. Furthermore, we demonstrate that NHL-2 ...


Understanding The Impacts Of Current And Future Environmental Variation On Central African Amphibian Biodiversity, Courtney A. Miller 2018 University of New Orleans

Understanding The Impacts Of Current And Future Environmental Variation On Central African Amphibian Biodiversity, Courtney A. Miller

University of New Orleans Theses and Dissertations

Global climate change is projected to impact multiple levels of biodiversity by imposing strong selection pressures on existing populations, triggering shifts in species distributions, and reorganizing entire communities. The Lower Guineo-Congolian region in central Africa, a reservoir for amphibian diversity, is predicted to be severely affected by future climate change through rising temperatures and greater variability in rainfall. Geospatial modelling can be used to assess how environmental variation shapes patterns of biological variation – from the genomic to the community level – and use these associations to predict patterns of biological change across space and time. The overall goal of this dissertation ...


Two Contrasting Classes Of Nucleolus-Associated Domains In Mouse Fibroblast Heterochromatin, Anastassiia Vertii, Jianhong Ou, Jun Yu, Aimin Yan, Hervé Pagès, Haibo Liu, Lihua Julie Zhu, Paul D. Kaufman 2018 University of Massachusetts Medical School

Two Contrasting Classes Of Nucleolus-Associated Domains In Mouse Fibroblast Heterochromatin, Anastassiia Vertii, Jianhong Ou, Jun Yu, Aimin Yan, Hervé Pagès, Haibo Liu, Lihua Julie Zhu, Paul D. Kaufman

University of Massachusetts Medical School Faculty Publications

In interphase eukaryotic cells, almost all heterochromatin is located adjacent to the nucleolus or to the nuclear lamina, thus defining Nucleolus Associated Domains (NADs) and Lamina Associated Domains (LADs), respectively. Here, we determined the first genome-scale map of murine NADs in mouse embryonic fibroblasts (MEFs) via deep sequencing of chromatin associated with purified nucleoli. We developed a Bioconductor package called NADfinder and demonstrated that it identifies NADs more accurately than other peak-calling tools, due to its critical feature of chromosome-level local baseline correction. We detected two distinct classes of NADs. Type I NADs associate frequently with both the nucleolar periphery ...


Diversification Across A Dynamic Landscape: Phylogeography And Riverscape Genetics Of Speckled Dace (Rhinichthys Osculus) In Western North America, Steven Michael Mussmann 2018 University of Arkansas, Fayetteville

Diversification Across A Dynamic Landscape: Phylogeography And Riverscape Genetics Of Speckled Dace (Rhinichthys Osculus) In Western North America, Steven Michael Mussmann

Theses and Dissertations

Evolution occurs at various spatial and temporal scales. For example, speciation may occur in historic time, whereas localized adaptation is more contemporary. Each is required to identify and manage biodiversity. However, the relative abundance of Speckled Dace (Rhinichthys osculus), a small cyprinid fish in western North America (WNA) and the study species for this dissertation, establishes it an atypical conservation target, particularly when contrasted with the profusion of narrowly endemic forms it displays. Yet, the juxtaposition of ubiquity versus endemism provides an ideal model against which to test hypotheses regarding the geomorphic evolution of WNA. More specifically, it also allows ...


Genetic And Epigenetic Investigations On Pulmonary Hypertension Syndrome In Meat Type- Chickens, Khaloud Alzahrani 2018 University of Arkansas, Fayetteville

Genetic And Epigenetic Investigations On Pulmonary Hypertension Syndrome In Meat Type- Chickens, Khaloud Alzahrani

Theses and Dissertations

This dissertation presents a collection of studies that investigate the genetic and epigenetic associations to ascites phenotype in broiler chickens. Ascites is a significant metabolic disease associated with fast-growing meat-type chickens (broilers) and is a terminal result of pulmonary hypertension syndrome PHS. It is a multi-factorial syndrome caused by interactions between genetic, physiological, environmental, and managemental factors. It was estimated that ascites accounts for losses of about US$1 billion annually worldwide and for over 25% of broilers mortality. Although traditional and molecular genetic methods in the selection and in performance improvements, has greatly reduced ascites frequency, yet it has ...


Phr: Patient Health Record, Quinn Nelson 2018 University of Nebraska at Omaha

Phr: Patient Health Record, Quinn Nelson

Theses/Capstones/Creative Projects

The rapid development of information technology systems has expanded into multiple disciplines and results in systems that are limited by initial design and implementation: the Healthcare Information Technology (HIT) space is no different. The introduction of the Electronic Health Record (EHR) system has changed the way healthcare operates. Initial designs of these systems were focused on serving the needs of insurance companies and healthcare billing departments. Research shows that the design of EHR systems negatively impact provider-patient interactions and the care they receive. This capstone project capitalizes on the collaboration efforts between UNO and UNMC – by joining a research group ...


Dna Subway Purple Line Metagenome Analysis, Ray A. Enke 2018 Selected Works

Dna Subway Purple Line Metagenome Analysis, Ray A. Enke

Ray Enke Ph.D.

This in class walkthrough demonstrates how to use the DNA Subway Purple Line for metagenomics analysis of 16S microbiome Illumina sequencing reads.


How Does Antibiotic Resistance Spread In Tuberculosis?, Julie A. Spencer 2018 University of New Mexico - Main Campus

How Does Antibiotic Resistance Spread In Tuberculosis?, Julie A. Spencer

Shared Knowledge Conference

The ancient bacterial disease of tuberculosis (TB) is curable with antibiotics, but according to the World Health Organization, in 2016 over 10 million people became infected with the disease. 600,000 of these cases were resistant to antibiotics, yet the worldwide treatment success rate for drug resistant TB is only 54%. Furthermore, strains exist now that are resistant to all known antibiotics. In the current environment of global travel, this poses a risk for emergent epidemics of drug resistant TB. In this study, I asked: after an antibiotic resistant strain has evolved in someone’s lungs, how does it spread ...


Mechanisms For The Spread Of Antibiotic Resistance In Tuberculosis, Julie Allison Spencer 2018 University of New Mexico - Main Campus

Mechanisms For The Spread Of Antibiotic Resistance In Tuberculosis, Julie Allison Spencer

Shared Knowledge Conference

Tuberculosis (TB) is currently the ninth leading cause of death for humans worldwide, causing 10.4 million new infections in 2016. According to the World Health Organization, of these infections, 600,000 were antibiotic resistant. However, the treatment success rate for resistant TB was only 54%. The potential for emergent epidemics of drug resistant TB highlights the need to understand the mechanisms for the spread of resistance. Mycobacterium tuberculosis, the bacterium that causes TB, evolves resistant strains within individuals who are being treated with antibiotics. It has been assumed previously that the resistant characteristics of these strains are spread primarily ...


17 - Divergent Gene Expression Of Hoxb3b In Teleost Fishes Is Due To Divergence Of Upstream Cis-Regulatory Elements, Erin Povolny 2018 University of North Georgia

17 - Divergent Gene Expression Of Hoxb3b In Teleost Fishes Is Due To Divergence Of Upstream Cis-Regulatory Elements, Erin Povolny

Georgia Undergraduate Research Conference (GURC)

Hox genes are developmental regulatory genes that function to pattern the cranial nerves that are derived from the rhombomeres (r) during vertebrate embryonic development. Hoxb3, in particular, has been shown to be expressed in r5-7 in several tetrapod species, including mouse (Mus musculus). Over the course of evolution, teleost fish have undergone a whole genome duplication, and several species have retained both duplicate Hoxb3 genes, hoxb3a and hoxb3b. These genes are expressed differently from each other, such that while hoxb3a is expressed in r4-7 in many teleost fish species, hoxb3b is expressed solely in r4. The cis-regulatory elements (CREs ...


2 - Bioinformatic Analysis Of Insect Iridescent Virus (Iiv6) Proposes Novel Open Reading Frames And Supports Previously Described Putative Protein Products, Amanda D. Mileham 2018 Gordon State College

2 - Bioinformatic Analysis Of Insect Iridescent Virus (Iiv6) Proposes Novel Open Reading Frames And Supports Previously Described Putative Protein Products, Amanda D. Mileham

Georgia Undergraduate Research Conference (GURC)

Bioinformatic analysis of Insect Iridescent Virus (IIV6) proposes novel open reading frames and supports previously described putative protein products

Amanda D. Mileham, and Amanda L.J. Duffus, Department of Mathematics and Natural Sciences, Gordon State College, Barnesville, GA 30204

Insect iridescent virus 6 (IIV6), also known as the Chilo iridescent virus (CIV), is a linear, double-stranded DNA virus that affects insects and other arthropods. IIV6 has been shown to cause mortality events in arthropods, including species involved in agriculture preservation. The current study attempts to expand our understanding of IIV6 by reanalyzing the first portion of the genome for novel ...


Museum Metabarcoding: A Novel Method Revealing Gut Helminth Communities Of Small Mammals Across Space And Time, Stephen E. Greiman, Joseph A. Cook, Vasyl V. Tkach, Eric P. Hoberg, Damian M. Menning, Andrew G. Hope, Sarah A. Sonsthagen, Sandra L. Talbot 2018 Georgia Southern University

Museum Metabarcoding: A Novel Method Revealing Gut Helminth Communities Of Small Mammals Across Space And Time, Stephen E. Greiman, Joseph A. Cook, Vasyl V. Tkach, Eric P. Hoberg, Damian M. Menning, Andrew G. Hope, Sarah A. Sonsthagen, Sandra L. Talbot

Faculty Publications from the Harold W. Manter Laboratory of Parasitology

Natural history collections spanning multiple decades provide fundamental historical baselines to measure and understand changing biodiversity. New technologies such as next generation DNA sequencing have considerably increased the potential of museum specimens to address significant questions regarding the impact of environmental changes on host and parasite/pathogen dynamics. We developed a new technique to identify intestinal helminth parasites and applied it to shrews (Eulipotyphla: Soricidae) because they are ubiquitous, occupy diverse habitats, and host a diverse and abundant parasite fauna. Notably, we included museum specimens preserved in various ways to explore the efficacy of using metabarcoding analyses that may enable ...


Fastqc Analysis & Hisat Alignments Using Cyverse (Part 2), Ray A. Enke 2018 Selected Works

Fastqc Analysis & Hisat Alignments Using Cyverse (Part 2), Ray A. Enke

Ray Enke Ph.D.

Part 2 of this in class exercise uses CyVerse Discovery Environment (DE) for the following:
  • view the output files of FastQC analysis
  • create custom data tracks from HISAT alignment files for visualization in the UCSC Genome Browser


Fastqc Analysis & Hisat Alignments Using Cyverse (Part 1), Ray A. Enke 2018 Selected Works

Fastqc Analysis & Hisat Alignments Using Cyverse (Part 1), Ray A. Enke

Ray Enke Ph.D.

This in class exercise demonstrates the basic features of the CyVerse Discovery Environment (DE) cyberinfrastructure and also provides a tutorial for setting up FastQC analysis of next generation sequencing reads as well as HISAT alignment of eukaryotic RNA-seq FASTQ files.


Intro To Command Line Coding (Fastqe & Fastp), Ray A. Enke 2018 Selected Works

Intro To Command Line Coding (Fastqe & Fastp), Ray A. Enke

Ray Enke Ph.D.

This in class activity is designed for novices as an introduction to command line coding. The activity uses the programs FASTQE and FASTP to analyze the quality and trim Illumina FASTQ sequencing data.


The Goldilocks Approach: A Review Of Employing Design Of Experiments In Prokaryotic Recombinant Protein Production, Albert Uhoraningoga, Gemma K. Kinsella, Gary T. Henehan, Barry Ryan 2018 Dublin Institute of Technology

The Goldilocks Approach: A Review Of Employing Design Of Experiments In Prokaryotic Recombinant Protein Production, Albert Uhoraningoga, Gemma K. Kinsella, Gary T. Henehan, Barry Ryan

Articles

The production of high yields of soluble recombinant protein is one of the main objectives of protein biotechnology. Several factors, such as expression system, vector, host, media composition and induction conditions can influence recombinant protein yield. Identifying the most important factors for optimum protein expression may involve significant investment of time and considerable cost. To address this problem, statistical models such as Design of Experiments (DoE) have been used to optimise recombinant protein production. This review examines the application of DoE in the production of recombinant proteins in prokaryotic expression systems with specific emphasis on media composition and culture conditions ...


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