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Genomics Commons

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2022

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Articles 31 - 60 of 85

Full-Text Articles in Genomics

Knowledge And Attitudes Of Pharmacogenetics Among Canadian Nurses: Implications For Nursing Education, Noopur Swadas, Sarah Dewell, Sandra J. Davidson Jun 2022

Knowledge And Attitudes Of Pharmacogenetics Among Canadian Nurses: Implications For Nursing Education, Noopur Swadas, Sarah Dewell, Sandra J. Davidson

Quality Advancement in Nursing Education - Avancées en formation infirmière

Pharmacogenetic testing is used to tailor medication recommendations based on an individual's genetic makeup. Increased precision in prescribing medication through the use of genetics leads to a reduction in adverse drug reactions resulting in decreased morbidity and mortality. Due to the noted benefits to patient health outcomes and reduction in healthcare costs, a growing number of Canadian health centers and community pharmacies are beginning to offer pharmacogenetic testing. Previous studies indicate that Canadian nurses have minimal education in genomics; however, there has been an increase in attention to nursing roles in the implementation of genomic health practices in recent years. …


Genetic Variations In The Myostatin Gene Among Irish Cattle Breeds, Cliona Ann Ryan Jun 2022

Genetic Variations In The Myostatin Gene Among Irish Cattle Breeds, Cliona Ann Ryan

ORBioM (Open Research BioSciences Meeting)

No abstract provided.


Characterizing Endogenous Dicer Products To Unravel Novel Rnai Biogenesis Pathways, Jacob Oche Peter Jun 2022

Characterizing Endogenous Dicer Products To Unravel Novel Rnai Biogenesis Pathways, Jacob Oche Peter

Dissertations

ABSTRACT

RNA interference (RNAi) is a pervasive gene regulatory mechanism in eukaryotes based on the action of multiple classes of small RNA (sRNA). Exploiting RNAi pathways in non-model systems have great potential for creating potent RNAi technologies. Here, we accessed RNAi-mediated control of gene expression in the two-spotted spider mite, Tetranychus urticae (T. urticae) using engineered dsRNA designed to modulate the host RNAi pathway and increase RNAi efficacy. Analysis of Dicer (Dcr) generated fragments revealed how exogenous RNAs access the host RNAi pathway in this animal, opening avenues for designing RNAi technology for their control. Further, some organisms …


Genomic Insights Into Mechanisms Of Microbial Evolution And Evolution-Inspired Strategies To Combat Pathogen Diversity, Saymon Akther Jun 2022

Genomic Insights Into Mechanisms Of Microbial Evolution And Evolution-Inspired Strategies To Combat Pathogen Diversity, Saymon Akther

Dissertations, Theses, and Capstone Projects

We live in an era of emerging infectious diseases that are increasingly common, rapidly spreading, and gravely devastating. Lyme disease, caused by bacteria belonging to the genus Borreliella, is rapidly rising in the Northern Hemisphere because of geographic range expansion of both the tick vectors and the pathogens. Evolutionary comparative analysis of Borreliella genomes is a key to understanding the phylogeographic history and mechanisms of their global diversification. Moreover, genomic variations in Borreliella associated with human pathogenicity, e.g., at loci encoding cell-surface antigens interacting with the vertebrate hosts, have not been fully identified. Similarly, the ongoing COVID-19 pandemic, caused …


Mechanisms By Which Xenorhabdus Nematophila Interacts With Hosts Using Integrated -Omics Approaches, Nicholas C. Mucci May 2022

Mechanisms By Which Xenorhabdus Nematophila Interacts With Hosts Using Integrated -Omics Approaches, Nicholas C. Mucci

Doctoral Dissertations

Nearly all organisms exist in proximity to microbes. These microbes perform most of the essential metabolic processes necessary for homeostasis, forming the nearly hidden support system of Earth. Microbial symbiosis, which is defined as the long-term physical association between host and microbes, relies on communication between the microbial community and their host organism. These interactions among higher order organisms (such as animals, plants, and fungi) and their bacteria links metabolic processes between interkingdom consortia. Many questions on microbial behavior within a host remain poorly understood, such as the colonization efficiency among different microbial species, or how environmental context changes their …


Multi-Omic Systems Biological Analysis Of Host-Microbe Interactions, Piet Jones May 2022

Multi-Omic Systems Biological Analysis Of Host-Microbe Interactions, Piet Jones

Doctoral Dissertations

Systems biology offers the opportunity to understand the complex mechanisms of various biological phenomena. The wealth of data that is produced, at an increasing rate, provides the potential to meet this opportunity. Here we take an applied approach to integrate multiple omic level data sources in order to generate biologically relevant hypotheses. We apply a novel analysis pipeline to model both, in concert, the microbial and transcriptomic signature from COVID-19 positive patients. We show patients may suffer from an increased microbial burden, with an increased pathogen potential. Gene expression evidence further shows patients may exhibit a compromised barrier immunity, owing …


Halodash: The Deep And Shallow History Of Aquatic Life's Passages Between Marine And Freshwater Habitats, Eric T. Schultz, Lisa Park Boush May 2022

Halodash: The Deep And Shallow History Of Aquatic Life's Passages Between Marine And Freshwater Habitats, Eric T. Schultz, Lisa Park Boush

EEB Articles

This series of papers highlights research into how biological exchanges between salty and freshwater habitats have transformed the biosphere. Life in the ocean and in freshwaters have long been intertwined; multiple major branches of the tree of life originated in the oceans and then adapted to and diversified in freshwaters. Similar exchanges continue to this day, including some species that continually migrate between marine and fresh waters. The series addresses key themes of transitions, transformations, and current threats with a series of questions: When did major colonizations of fresh waters happen? What physiographic changes facilitated transitions? What organismal characteristics facilitate …


Repeated Targets Of Natural Selection During Ecological Transitions Of Fish Across Salinity Boundaries, Jonathan P. Velotta, Stephen D. Mccormick, Andrew Whitehead, Catherine S. Durso, Eric T. Schultz May 2022

Repeated Targets Of Natural Selection During Ecological Transitions Of Fish Across Salinity Boundaries, Jonathan P. Velotta, Stephen D. Mccormick, Andrew Whitehead, Catherine S. Durso, Eric T. Schultz

EEB Articles

Ecological transitions across salinity boundaries have led to some of the most important diversification events in the animal kingdom, especially among fishes. Adaptations accompanying such transitions include changes in morphology, diet, whole-organism performance, and osmoregulatory function, which may be particularly prominent since divergent salinity regimes make opposing demands on systems that maintain ion and water balance. Research in the last decade has focused on the genetic targets underlying such adaptations, most notably by comparing populations of species that are distributed across salinity boundaries. Here, we synthesize research on the targets of natural selection using whole-genome approaches, with a particular emphasis …


Scalable Software Infrastructure For The Lab And A Specific Investigation Of The Yeast Transcription Factor Eds1, Chase Mateusiak May 2022

Scalable Software Infrastructure For The Lab And A Specific Investigation Of The Yeast Transcription Factor Eds1, Chase Mateusiak

McKelvey School of Engineering Theses & Dissertations

Individual biology labs handle increasingly large data sets. Ensuring accurate data entry, consistent sample metadata, and ease of access to the data once it is stored, are critical for both the integrity of analysis as well as productivity of the lab. Chapter 1 one of this thesis describes three implementations of software meant to facilitate handling data and metadata in the lab as the size of the data and complexity of analysis scale. The first piece of software is a database and entry interface for storing a large and varied amount of data on biological samples. The second is a …


Unraveling The Genetic Architecture Of Somatic Embryogenesis In Upland Cotton, Adam M. Canal May 2022

Unraveling The Genetic Architecture Of Somatic Embryogenesis In Upland Cotton, Adam M. Canal

All Theses

Somatic embryogenesis is the de novo development of asexual embryos because of the plasticity of the plant cell. In tissue culture, the biochemical and genetic mechanisms of dedifferentiated callus tissues can be reprogrammed to transdifferentiate into developed, polarized embryos, which can ultimately regenerate into whole plants. Although this rarely occurs in nature, scientists have exploited this process for decades to regenerate whole plants following gene transformation or for micropropagation. While some species are amenable to in vitro regeneration, upland cotton is particularly recalcitrant, with regenerative potential being confined to only several genotypes. The lack of elite, regenerable genotypes greatly restricts …


An Investigation Of Epigenetic Mechanisms Driving The Biology Of Head And Neck Squamous Cell Carcinoma, Scot Carson Callahan May 2022

An Investigation Of Epigenetic Mechanisms Driving The Biology Of Head And Neck Squamous Cell Carcinoma, Scot Carson Callahan

Dissertations & Theses (Open Access)

Head and neck squamous cell carcinoma (HNSCC) is the 6th most common cancer worldwide and is associated with significant morbidity and mortality. To date, the majority of work in the field has focused on genomic alterations such as mutations and copy number alterations. However, the clinical success of targeted therapies that exploit known genomic alterations, such as EGFR mutations, has remained mixed. Over the past decade, the importance of epigenetic regulators has come to the forefront, with the realization that many of these genes are mutated in cancer. Despite this realization, the role of epigenetics in regulating tumorigenesis, progression and …


Investigating The Ecology And Evolution Of Normal Breast Tissues And Breast Cancer With Single Cell Genomics, Tapsi Kumar, Tapsi Kumar May 2022

Investigating The Ecology And Evolution Of Normal Breast Tissues And Breast Cancer With Single Cell Genomics, Tapsi Kumar, Tapsi Kumar

Dissertations & Theses (Open Access)

There is vast cellular heterogeneity in human breast tissues, with different transcriptional programs in the stromal, epithelial, and immune components, however, it remains unclear how their reprogramming and interplay leads to the progression of invasive phenotypes such as Triple- Negative Breast cancer (TNBC). To do define the microenvironmental alterations that occur during cancer, we first established a human breast cell atlas, a reference of normal breast cell types from disease free women. We profiled 535,941 cells from 62 women and 124,024 nuclei from 20 women revealing 11 major cell types and 52 cell states that reflect different biological functions that …


Genomic Tools And Models For Investigating The Role Of Germline Diversity In Mouse Antibody Repertoire Development., Justin T. Kos May 2022

Genomic Tools And Models For Investigating The Role Of Germline Diversity In Mouse Antibody Repertoire Development., Justin T. Kos

Electronic Theses and Dissertations

Given the diversity and complexity within immunoglobulin (IG) loci, effective mouse models first require characterization of intra-strain differences and construction of high-quality reference assemblies for IG loci in several representative strains. To understand light chain germline diversity across biomedically significant mouse strains, we profiled the expressed IGK and IGL repertoires of 18 commonly used laboratory mouse strains using AIRR-seq. Across strains, we observed germline IGKV sequences shared by three different IGK haplotypes and a more conserved IGLV germline repertoire among common laboratory strains. Pacific Biosciences (PacBio) Single-Molecule Real-Time (SMRT) sequencing was used to sequence and assemble bacterial artificial chromosomes (BAC) …


Functional Role Of Ppal And Potential For Moss In Industrial Applications., Susana Perez Martinez May 2022

Functional Role Of Ppal And Potential For Moss In Industrial Applications., Susana Perez Martinez

Electronic Theses and Dissertations

This dissertation is an examination and characterization of the functional roles of PPAL. PROTEIN PRENYLTRANSFERASE ALPHA SUBUNIT-LIKE (PPAL) is a recently discovered gene. PPAL homologs are present in all plants and many animals, where its function is largely unknown. It is possible that PPAL could participate in prenylation processes since it shares similarity to the α subunits of known prenylation enzymes. Prenylation is a post-translational modification of proteins that involves the addition of a lipid moiety to proteins to facilitate membrane targeting and association and promote protein-protein interactions. Prenylation has important roles in plant growth and development, including …


Computational Approaches To Understand Chemoresistance & Tumor Evolution Using Longitudinal Clinical Data And Lineage Tracing, Sahil Seth May 2022

Computational Approaches To Understand Chemoresistance & Tumor Evolution Using Longitudinal Clinical Data And Lineage Tracing, Sahil Seth

Dissertations & Theses (Open Access)

Tumors are highly heterogeneous and dynamic, continually adapting and evolving in response to their microenvironment as well as external perturbations. Multi-region (spatial) and single cell sequencing has enabled us to anatomize the heterogeneity further and provide evidence of its association with chemo and drug resistance. To investigate this further we took two different approaches to understand the chemo-resistance, and functional heterogeneity in Triple negative breast cancer (TNBC) and Pancreatic ductal carcinoma in situ (PDAC) from an evolutionary perspective.

The first approach was to leverage tumor profiling from an ongoing randomized clinical trial in triple-negative breast cancer (ARTEMIS) to assess mechanisms …


Effects Of Continuous In Situ Low-Dose Ionizing Radiation On Microorganisms, Molly E. Wintenberg May 2022

Effects Of Continuous In Situ Low-Dose Ionizing Radiation On Microorganisms, Molly E. Wintenberg

All Dissertations

Precise detection and monitoring of nuclear fuel cycle, enrichment, and weapon development activities are critical for supporting warfighter preparation in chemical, biological, radiological, nuclear, and explosives (CBRNE) operations, clandestine activities, and nuclear compliance. A biological sensing system could serve as an alternative to traditional detection methods by using organic material naturally present in the environment to discreetly detect residual trace nuclear material. Microorganisms provide an optimal platform for an alternative sensing system; however, their response to low levels of ionizing radiation is poorly characterized. Combining the power of next-generation sequencing and transcriptomic analysis, this dissertation takes an approach to obtain …


Proteomic Analysis Of The Expression Of Masp1 Dragline Silk Protein In E. Coli, Sophie Rae Pazzo, Rajan Amit Patel, Kamrin Athwal, Edward Kim Apr 2022

Proteomic Analysis Of The Expression Of Masp1 Dragline Silk Protein In E. Coli, Sophie Rae Pazzo, Rajan Amit Patel, Kamrin Athwal, Edward Kim

Pacific Undergraduate Research and Creativity Conference (PURCC)

No abstract provided.


Exploration Of Genes Controlling Grain Yield Heterosis In Hybrid Wheat (Triticum Aestivum L.) Utilizing 3ʹ Rna Sequencing, Nichole Miller Apr 2022

Exploration Of Genes Controlling Grain Yield Heterosis In Hybrid Wheat (Triticum Aestivum L.) Utilizing 3ʹ Rna Sequencing, Nichole Miller

Department of Agronomy and Horticulture: Dissertations, Theses, and Student Research

The implementation and future success of hybrid wheat (Triticum aestivum L.) is impacted by breeders’ inability to create consistent high yielding, high heterosis hybrids. This research addresses this problem by conducting an exploration of transcriptomes from hybrids and parent lines to determine what genes are active in heterotic or non-heterotic hybrids and how their level of expression can explain the phenotype of grain yield heterosis. Using hybrids that showed positive mid-parent heterosis (MPH), classified as heterotic in our study, and negative or no difference MPH hybrids, classified as non-heterotic, differentially expressed genes (DEGs) potentially related to heterosis and hybrid …


Spr-5; Met-2 Maternal Reprogramming Cooperates With The Dream Complex To Regulate Developmental Cell Fates, Jazmin Dozier, Sandra Nguyen, Brandon Carpenter Apr 2022

Spr-5; Met-2 Maternal Reprogramming Cooperates With The Dream Complex To Regulate Developmental Cell Fates, Jazmin Dozier, Sandra Nguyen, Brandon Carpenter

Symposium of Student Scholars

Histone methylation is a post-transcriptional modification to the N-terminal tails of histone core proteins that regulates DNA accessibility, and consequently, gene expression. Like DNA, histone methylation can be inherited between generations, and is highly regulated during embryonic development. At fertilization, histone methylation must undergo maternal reprogramming to reset the epigenetic landscape in the new zygote. During maternal reprogramming of histone methylation in the nematode, C. elegans, H3K4me (a modification associated with active transcription) is removed by the H3K4 demethylase, SPR-5, and H3K9me (a modification associated with transcriptional repression) is subsequently added by the histone methyltransferase, MET-2. Recently, it was …


Microbial Diversity And Community Structure In Sediments Associated With The Seagrass (Thallassia Testudinum) In Apalachicola Bay, Florida, Rahma Ahmed, Thomas Mcelroy, Troy Mutchler Apr 2022

Microbial Diversity And Community Structure In Sediments Associated With The Seagrass (Thallassia Testudinum) In Apalachicola Bay, Florida, Rahma Ahmed, Thomas Mcelroy, Troy Mutchler

Symposium of Student Scholars

Seagrass is an angiosperm which provides many ecosystem services in coastal areas, such as providing food, shelter and nurseries for many species, and decreasing the impact of waves on shorelines. A global assessment reported that 29% of known seagrass meadows are in a state of decline due to the effects of human activity. Seagrass is commonly found in shallow marine waters where they form meadows containing a microbiome that plays an important role in providing nutrients for seagrass growth, though little is known about the microorganisms within the seagrass meadow sediments. Our project collected sediments from seagrass meadows and adjacent …


Identifying Molecular Markers For Early Detection Of Toxic Cyanobacteria And Dinoflagellate, Shafqat F. Ehsan Apr 2022

Identifying Molecular Markers For Early Detection Of Toxic Cyanobacteria And Dinoflagellate, Shafqat F. Ehsan

Honors Program Theses and Research Projects

Harmful algal Blooms (HABs) develop when algal colonies grow out of control, causing toxicity or injury to humans, fish, shellfish, marine mammals, and birds. Most HABs of public health concern in saltwater generally are caused by eukaryotic dinoflagellates and diatoms. Prokaryotic cyanobacteria are usually responsible for freshwater blooms although they can contribute to saltwater and brackish blooms too. A common monitoring target of both groups is the saxitoxin-encoding genes. Saxitoxin(STX) is responsible for Paralytic shellfish poisoning, a foodborne illness developed from consumption of STX contaminated shellfish. Each cyanobacterial SXT gene cluster contains a set of core genes, common to all …


Screening For Binding Partners And Protein-Protein Interactions Of A Fungal Transcription Factor- Xdr1, Nishadi Punsara Gallala Gamage Mar 2022

Screening For Binding Partners And Protein-Protein Interactions Of A Fungal Transcription Factor- Xdr1, Nishadi Punsara Gallala Gamage

Masters Theses

Clarireedia spp. (formerly Sclerotinia homoeocarpaF.T. Bennett) is the causal agent dollar spot, the most economically important turfgrass disease impacting golf courses in North America. The most effective strategy for dollar spot control is repeated application of multiple classes of fungicides. However, reliance on chemical application has led to resistance to four classes of fungicides as well as multidrug resistance (MDR). Fungi are known to detoxify xenobiotics, like fungicides, through transcriptional regulation of three detoxification phases: modification, conjugation and secretion. Little is known, however, of the protein-protein interactions that facilitate these pathways. Following next-generation RNA sequencing of Clarireedia spp., a …


Genomic Organization And Expression Of The Wc1 Hybrid Coreceptor And Pattern Recognition Receptor On Porcine Gamma Delta T Cells, Lauren Le Page Mar 2022

Genomic Organization And Expression Of The Wc1 Hybrid Coreceptor And Pattern Recognition Receptor On Porcine Gamma Delta T Cells, Lauren Le Page

Doctoral Dissertations

gd T cells are a crucial component of the immune response to a number of increasingly relevant and largely zoonotic pathogens to which efficacious vaccination is lacking. In ruminants and swine, gd T cells represent a major population of peripheral blood and epithelial tissue-resident lymphocytes. gdT cells respond to both protein and non-protein antigens independently of MHC presentation and possess immunological memory. Upon activation, gamma delta T cells illicit a variety of effector functions and play an indispensable role of orchestrating the downstream immune response. These characteristics make gamma delta T cells a promising candidate for recruitment by vaccination, however, …


Applications Of Nanopore Dna Sequencing For Improved Genome Assembly, Daniel Giguere Mar 2022

Applications Of Nanopore Dna Sequencing For Improved Genome Assembly, Daniel Giguere

Electronic Thesis and Dissertation Repository

An organism's genome is the ultimate determinant of its functional potential. Understanding genomes is therefore essential to understand function, and a foundational knowledge of a genome is required transfer functions to and from microorganisms of interest. Sequencing DNA using nanopores is a recent advance that resolves limitations of previous technologies, enabling an improved understanding of genomes. For this thesis, I improved our understanding of microbial genomes by developing novel approaches to analyze long read sequencing data, setting the foundation for future synthetic biology work.

Long sequencing reads have enabled routine assembly of complete bacterial genomes by directly sequencing DNA extracted …


The Large And Small Of It: The Microbiome And Metagenomics, Austin Hopkins, Elaina Gollmar, Jessica Fernandez, Shawn Wolf, Austin Hilverding, Andrew M. Roecker Mar 2022

The Large And Small Of It: The Microbiome And Metagenomics, Austin Hopkins, Elaina Gollmar, Jessica Fernandez, Shawn Wolf, Austin Hilverding, Andrew M. Roecker

Pharmacy and Wellness Review

Metagenomics, the analysis of the microbial genome, permits scientists to understand the influences of external sources including diet, metabolism and antibiotics on the human microbiome. Research has revealed the possibility of a core symbiosis between humans and bacteria. The main role of the human microbiome is to aid in digestion, but identified ancillary roles include immunologic homeostasis and infection prevention. Quantifying the composition and variability of the microbiome will help lead to future treatments or preventive strategies against unhealthy change. A variety of methods may be used to define the microbiome, and 16S amplicon sequencing is primarily utilized today. Probiotics …


Characterization Of Streptomyces Nymphaeiformis Sp. Nov., And Its Taxonomic Relatedness To Other Polyhydroxybutyrate-Degrading Streptomycetes, Gary R. Hix, Muhammad S. Khan, Mikayla T. Miller, Elisha C. Napier, Allison L. O'Brien, Roger P. White, Stephen F. Baron Ph.D. Mar 2022

Characterization Of Streptomyces Nymphaeiformis Sp. Nov., And Its Taxonomic Relatedness To Other Polyhydroxybutyrate-Degrading Streptomycetes, Gary R. Hix, Muhammad S. Khan, Mikayla T. Miller, Elisha C. Napier, Allison L. O'Brien, Roger P. White, Stephen F. Baron Ph.D.

Biology Faculty Scholarship

A polyhydroxybutyrate (PHB)-degrading actinomycete, strain SFB5AT, was identified as a species of Streptomyces based on its membrane fatty acid profile and the presence of LL-diaminopimelic acid in the cell wall. It formed sporulating mycelia on most agar media, but flat or wrinkled, moist colonies on trypticase soy agar. Spores were smooth, cylindrical, and borne on long, straight to flexuous chains. It produced a light brown diffusible pigment, but not melanin. Comparison of genomic digital DNA–DNA hybridization (dDDH) and average nucleotide identity (ANI) values indicated that strain SFB5AT was related to Streptomyces litmocidini JCM 4394T , Streptomyces …


Multi-Year Data Analysis And Genomic Selection To Improve The Efficiency Of A Rice Breeding Program, Tommaso Cerioli Mar 2022

Multi-Year Data Analysis And Genomic Selection To Improve The Efficiency Of A Rice Breeding Program, Tommaso Cerioli

LSU Doctoral Dissertations

Plant breeding dramatically improved crops performances during human history and will play a pivotal role in shaping the future of agriculture. However, this activity requires large amount of time and resources. The availability of multi-year datasets and abundant DNA information enables new analyses and breeding approaches that can increase the productivity and efficiency of a breeding program. In recent years, the LSU Rice Breeding Program has implemented marker assisted selection (MAS) and genomic selection (GS) to predict performance of rice genotypes before field testing. The goal of this project was to conduct analyses and test molecular approaches to increase the …


Rare Coding Variants In Rcn3 Are Associated With Blood Pressure, Karen Y. He, Tanika N. Kelly, Heming Wang, Jingjing Liang, Luke Zhu, Brian E. Cade, Themistocles L. Assimes, Lewis C. Becker, Amber L. Beitelshees, Lawrence F. Bielak, Adam P. Bress, Jennifer A. Brody, Yen-Pei Christy Chang, Yi-Cheng Chang, Paul S. De Vries, Ravindranath Duggirala, Ervin R. Fox, Nora Franceschini, Anna L. Furniss, Yan Gao, Donna K. Arnett Feb 2022

Rare Coding Variants In Rcn3 Are Associated With Blood Pressure, Karen Y. He, Tanika N. Kelly, Heming Wang, Jingjing Liang, Luke Zhu, Brian E. Cade, Themistocles L. Assimes, Lewis C. Becker, Amber L. Beitelshees, Lawrence F. Bielak, Adam P. Bress, Jennifer A. Brody, Yen-Pei Christy Chang, Yi-Cheng Chang, Paul S. De Vries, Ravindranath Duggirala, Ervin R. Fox, Nora Franceschini, Anna L. Furniss, Yan Gao, Donna K. Arnett

Epidemiology and Environmental Health Faculty Publications

BACKGROUND: While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of …


Transposon- And Genome Dynamics In The Fungal Genus Neurospora: Insights From Nearly Gapless Genome Assemblies, Diem Nguyen, Valentina Peona, Per Unneberg, Alexander Suh, Patric Jern, Hanna Johannesson Feb 2022

Transposon- And Genome Dynamics In The Fungal Genus Neurospora: Insights From Nearly Gapless Genome Assemblies, Diem Nguyen, Valentina Peona, Per Unneberg, Alexander Suh, Patric Jern, Hanna Johannesson

Fungal Genetics Reports

A large portion of nuclear DNA is composed of transposable element (TE) sequences, whose transposition is controlled by diverse host defense strategies in order to maintain genomic integrity. One such strategy is the fungal-specific Repeat-Induced Point mutation (RIP) that hyper-mutates repetitive DNA sequences. While RIP is found across Fungi, it has been shown to vary in efficiency. The filamentous ascomycete Neurospora crassa has been a pioneer in the study of RIP, but data on TEs and RIP from other species in the genus is limited. In this study, we investigated 18 nearly gapless genome assemblies of ten Neurospora species, which …


Long-Read Sequencing Of The Zebrafish Genome Reorganizes Genomic Architecture, Yelena Chernyavskaya, Xiaofei Zhang, Jinze Liu, Jessica S. Blackburn Feb 2022

Long-Read Sequencing Of The Zebrafish Genome Reorganizes Genomic Architecture, Yelena Chernyavskaya, Xiaofei Zhang, Jinze Liu, Jessica S. Blackburn

Molecular and Cellular Biochemistry Faculty Publications

BACKGROUND: Nanopore sequencing technology has revolutionized the field of genome biology with its ability to generate extra-long reads that can resolve regions of the genome that were previously inaccessible to short-read sequencing platforms. Over 50% of the zebrafish genome consists of difficult to map, highly repetitive, low complexity elements that pose inherent problems for short-read sequencers and assemblers.

RESULTS: We used long-read nanopore sequencing to generate a de novo assembly of the zebrafish genome and compared our assembly to the current reference genome, GRCz11. The new assembly identified 1697 novel insertions and deletions over one kilobase in length and placed …