Open Access. Powered by Scholars. Published by Universities.®

Genetics and Genomics Commons

Open Access. Powered by Scholars. Published by Universities.®

Book Gallery

2021

Discipline
Institution
Keyword
Publication

Articles 1 - 20 of 20

Full-Text Articles in Genetics and Genomics

Ecological Risk Assessment For The Temperate Demersal Elasmobranch Resource, Department Of Primary Industries And Regional Development, Western Australia Oct 2021

Ecological Risk Assessment For The Temperate Demersal Elasmobranch Resource, Department Of Primary Industries And Regional Development, Western Australia

Fisheries research reports

No abstract provided.


Otoliths Of South-Western Australian Fish: A Photographic Catalogue, Chris Dowling, Kim Smith, Elain Lek, Joshua Brown Sep 2021

Otoliths Of South-Western Australian Fish: A Photographic Catalogue, Chris Dowling, Kim Smith, Elain Lek, Joshua Brown

Fisheries research reports

No abstract provided.


Otoliths Of South-Western Australian Fish: A Photographic Catalogue, Chris Dowling, Kim Smith, Elaine Lek, Joshua Brown Sep 2021

Otoliths Of South-Western Australian Fish: A Photographic Catalogue, Chris Dowling, Kim Smith, Elaine Lek, Joshua Brown

Fisheries research reports

Due to the species-specific nature of otoliths and given they are often the only part of the fish preserved when fish die, otolith catalogues can be used in numerous applications, such as diet studies in fish eating animals, including pinnipeds, fish and sea birds; archaeological purposes such as reconstructing indigenous people’s diets from otoliths found in middens or evolutionary history of fish species by comparing fossilized otoliths. Given the unique mixture of subtropical and temperate fish, including many endemic species that occur off the southwest corner of WA having a catalogue for this area is extremely important for people working …


Squid And Cuttlefish Resources Of Western Australia, Daniel Yeoh, Danielle J. Johnston Phd, David C. Harris Sep 2021

Squid And Cuttlefish Resources Of Western Australia, Daniel Yeoh, Danielle J. Johnston Phd, David C. Harris

Fisheries research reports

No abstract provided.


Primary Industries Development Research Highlights 2021, Department Of Primary Industries And Regional Development, Tim Scanlon Aug 2021

Primary Industries Development Research Highlights 2021, Department Of Primary Industries And Regional Development, Tim Scanlon

Books & book chapters

The Primary Industries Development Research Highlights 2021 showcases the breadth and depth of the Department of Primary Industries and Regional Development’s research and development activities over the past several years.

Stories featured in Research Highlights 2021 stem from about 60 (of 140) current and recently-completed projects undertaken by the Department of Primary Industries and Regional Development’s (DPIRD) 1100 scientists, technical experts and economists throughout the State.

Explore our Research Highlights 2021.

The publication demonstrates the innovative and applicable research that DPIRD and its collaborators and investment partners deliver to Western Australia.

Download the Research Highlights 2021 here. Alternatively, …


Study Of Sickle Cell Disease, Aaron Guevarra, Carlos Herrera, Faysal Ali Apr 2021

Study Of Sickle Cell Disease, Aaron Guevarra, Carlos Herrera, Faysal Ali

Undergraduate Research Symposium Posters

The purpose of this research timeline is to explore the history, prevalence, and effects of Sickle Cell Disease (SCD) so that treatments and possible future experiments or cures may be discussed. In SCD, abnormal red blood cells appear as sickle shaped as opposed to the round shape of normal red blood cells. It is inherited in an autosomal recessive pattern, so an individual must inherit two copies of the allele. The gene mutation is a single nucleotide mutation in the gene which codes for β-globin. In 1910, James B. Herrick first described the disease, and in 1949, its inheritance pattern …


The History And Future Of Cystic Fibrosis, Randall Combs, Che Fung Andy Chan, Daisy Sahagun Apr 2021

The History And Future Of Cystic Fibrosis, Randall Combs, Che Fung Andy Chan, Daisy Sahagun

Undergraduate Research Symposium Posters

The purpose of this research timeline is to highlight the tumultuous yet inspiring history of Cystic Fibrosis disease and treatment to give us a more pragmatic understanding of its current state. Cystic Fibrosis is an autosomal recessive disease, most often caused by a single amino-acid deletion of phenylalanine at position 508 in the nucleotide binding domain, which results in a loss of the cystic fibrosis transmembrane conductance regulator (CFTR). Symptomatology varies considerably but a buildup of mucus in the respiratory tract leading to lung failure, and exocrine pancreatic insufficiency which results in digestive and metabolic dysfunction are commonly, if not …


A Timeline Of Oculocutaneous Albinism, Mohammed Abushanab, Maria Ceroni, Kimberly Morán Apr 2021

A Timeline Of Oculocutaneous Albinism, Mohammed Abushanab, Maria Ceroni, Kimberly Morán

Undergraduate Research Symposium Posters

The purpose of this research timeline is to synthesize the natural history of Oculocutaneous Albinism (OCA), discover gaps in knowledge, as well as understand the genes and mutations that incite the disease. It is through methods of literature-based research that we found the earliest recognition of OCA and investigated it up to its most current state of research. The rate of research remains steady and continuous with the focus varying widely; either by examining more of the genes involved in the disease or by taking more in-depth looks at mutational analyses of genes that are already observed to be linked …


An Investigation On The History And Current Research Of Fragile X Syndrome, Makeda Asare, Isabelle Avenido, Maxene Vergonia-Fehlman Apr 2021

An Investigation On The History And Current Research Of Fragile X Syndrome, Makeda Asare, Isabelle Avenido, Maxene Vergonia-Fehlman

Undergraduate Research Symposium Posters

The purpose of this research is to synthesize the history of Fragile X Syndrome through literature-based research in order to assess the scope of research, population variation, social impact, and treatment. Fragile X was first documented in 1943 by Dr. Julia Bell and Dr. James Purdon Martin in a report of a family case study in which eleven males across two generations showed symptoms of intellectual disabilities. Fragile X Syndrome is an X-linked disorder caused by mutation in the Fragile X mental retardation 1(FMR1) gene on chromosome Xq27.3. The FMR1 mutations are triplet repeat expansion of the CGG repeat sequences …


Retinoblastoma: Past, Present, And Future, Izabela Daneva, Crysty-Ann Olaco, Albert Tran Apr 2021

Retinoblastoma: Past, Present, And Future, Izabela Daneva, Crysty-Ann Olaco, Albert Tran

Undergraduate Research Symposium Posters

The purpose of this research timeline is to synthesize the natural history of retinoblastoma to understand its societal effects and develop a public health message to raise awareness of the disease. We used literature-based research in order to gain an understanding about the discovery of this disease and investigate its most current state of knowledge. Retinoblastoma is an intraocular cancer that manifests early in childhood. It is typically linked to a somatic or germline insertion, deletion, or single-base substitution mutation on both alleles of RB1, a tumor-suppressor gene. Retinoblastoma was first identified in 1809 by James Wardrop, and since then, …


Nanopore Guided Regional Assembly, Eleni Adam, Desh Ranjan, Harold Riethman Apr 2021

Nanopore Guided Regional Assembly, Eleni Adam, Desh Ranjan, Harold Riethman

College of Sciences Posters

The telomeres are the “caps” of the chromosomes and their vital role is to protect them. Possible telomere dysfunction caused by telomere rearrangements can be fatal for the cell and result in age-related diseases, including cancer. The telomeres and subtelomeres are regions that are hard to investigate. The current technology cannot provide their complete sequence, instead the DNA is given in multiple pieces. Current methods of assembling the pieces of these regions are not accurate enough due to the region’s high variability and complex repeated patterns. We propose a hybrid assembly method, the NPGREAT, which utilizes two of the latest …


Enviromental Dna Analysis Of A Critically Endangered Cavefish, Katelyn Gitner Jan 2021

Enviromental Dna Analysis Of A Critically Endangered Cavefish, Katelyn Gitner

Summer Community of Scholars Posters (RCEU and HCR Combined Programs)

No abstract provided.


The Study Of Ppal And Its Role In The Development Of Physcomitrella Patens, Susana Perez-Martinez, Christine Chen, Mark P. Running Jan 2021

The Study Of Ppal And Its Role In The Development Of Physcomitrella Patens, Susana Perez-Martinez, Christine Chen, Mark P. Running

Undergraduate Arts and Research Showcase

Protein Prenylation is the addition of lipids to select proteins that play a key role during the development of plants. There are three enzymes that play a role in protein prenylation: protein farnesyltransferase (PFT), protein geranylgeranyl-transferase-I (PGGT), and Rab geranylgeranyltransferase (Rab-GGT). However, there is a protein called PPAL that has a similar alpha subunit of PFT, PGGT, and RAB-GGT but its biochemical function is unknown. Physconmitrella patens, a type of moss, was chosen to explore the role of PpPPAL in the development process. There are two copies of PPAL found in moss. PPAL1 and PPAL2. To study the role …


Biomarkers Of Ptsd: Dried Blood Spot Mrna Isolation, Amplification, And Analysis, Tyler F. Chan, Sarah G. Van Winkle Jan 2021

Biomarkers Of Ptsd: Dried Blood Spot Mrna Isolation, Amplification, And Analysis, Tyler F. Chan, Sarah G. Van Winkle

Summer Community of Scholars Posters (RCEU and HCR Combined Programs)

No abstract provided.


Attitudes And Opinions About Direct-To-Consumer Genetic Testing In Undergraduate Science Students, Morgan N. Driver, Sally I-Chun Kuo, Olivia Nayeri, Chloe J. Walker, Chelsea Derlan Willians, Tricia Smith, Amy E. Adkins, Danielle M. Dick Jan 2021

Attitudes And Opinions About Direct-To-Consumer Genetic Testing In Undergraduate Science Students, Morgan N. Driver, Sally I-Chun Kuo, Olivia Nayeri, Chloe J. Walker, Chelsea Derlan Willians, Tricia Smith, Amy E. Adkins, Danielle M. Dick

Graduate Research Posters

Background: There has been exponential growth in the number of direct-to-consumer genetic testing kits sold in the past decade. Consumers utilize direct-to-consumer genetic tests for a number of reasons which include learning about one’s ancestry and potential ways to manage health. Emerging adults tend to be early adopters of new technologies; however, there has been little research regarding the opinions about direct-to-consumer genetic testing in emerging adults.

Methods: Data came from a study conducted in an upper-level biology course focusing on understanding undergraduate science students’ overall experiences with receiving personalized genetic testing results from 23andMe. The present study used data …


Transcriptional Repressor Protein Based Macrolide Biosensor Development With Improved Sensitivity, Jayani A. Christopher Jan 2021

Transcriptional Repressor Protein Based Macrolide Biosensor Development With Improved Sensitivity, Jayani A. Christopher

Graduate Research Posters

Macrolide antibiotics are in high demand for clinical applications. Macrolides are biosynthesized via giant assembly line polyketide synthases (PKS) which are arranged in a modular fashion. Combinatorial biosynthetic methods have been used to produce diversified macrolides by reprograming these modules and modifying tailoring enzymes required for post synthetic modifications. However it is challenging due to the size and complexity of PKSs. To overcome this challenge, new enzymes for macrolide diversification could be obtained by directed evolution where a large number of enzyme variants need to be screened. Therefore it is important to develop high throughput screening methods to identify the …


Principal Components Analysis Corrects Collider Bias In Polygenic Risk Score Effect Size Estimation, Nathaniel S. Thomas, Peter B. Barr, Fazil Aliev, Sally I. Kuo, Danielle M. Dick, Jessica E. Salvatore Jan 2021

Principal Components Analysis Corrects Collider Bias In Polygenic Risk Score Effect Size Estimation, Nathaniel S. Thomas, Peter B. Barr, Fazil Aliev, Sally I. Kuo, Danielle M. Dick, Jessica E. Salvatore

Graduate Research Posters

BACKGROUND: Genome-wide polygenic scoring has emerged as a way to predict psychiatric and behavioral outcomes and identify environments that promote the expression of genetic risks. An increasing number of studies demonstrate that the effects of polygenic risk scores (PRS) may be biased by the inclusion of heritable environments as covariates when the environment is influenced by unmeasured confounding variables, an example of collider bias. Inclusion of the principal components of observed confounders as covariates may correct for the effect of unmeasured confounders.

METHODS: A simulation study was conducted to test principal components analysis (PCA) as a correction for collider bias. …


Vasculogenic Mimicry: Role Of Melanoma Differentiation Associated Gene-9/Syntenin, Jinkal Modi, Anjan Pradhan, Luni Emdad, Swadesh Das, Paul Fisher Jan 2021

Vasculogenic Mimicry: Role Of Melanoma Differentiation Associated Gene-9/Syntenin, Jinkal Modi, Anjan Pradhan, Luni Emdad, Swadesh Das, Paul Fisher

Graduate Research Posters

Malignant melanoma (MM) is the most aggressive skin cancer and the most frequent skin disorder in Caucasians. MM is associated with aggressive and progressive disease states, leading to major cancer-related morbidity and mortality. Recent investigations identify a new non-angiogenesis-dependent pathway vasculogenic mimicry (VM), which is considered a cancer hallmark that can independently facilitate tumor neovascularization by the formation of fluid-conducting and vascular endothelial cells. MM cells undergoing VM can dedifferentiate into numerous cellular phenotypes and acquire endothelial-like features, resulting in the formation of the de novo matrix-rich vascular-like network, such as plasma and red blood cells. The co-generation of endothelial …


Pharmacogenomics And Ssris Appropriateness In Older Community Dwelling African Americans, Wint War Phyo, Lana Sargent, Elvin T. Price Jan 2021

Pharmacogenomics And Ssris Appropriateness In Older Community Dwelling African Americans, Wint War Phyo, Lana Sargent, Elvin T. Price

Graduate Research Posters

Background: Depressive and anxiety disorders are among the most common illnesses experienced by older adults (age > 60). The selective serotonin reuptake inhibitors (SSRIs) are preferred class of antidepressants for these disorders due to their high efficacy and safety profiles among older adults. However, SSRIs are metabolized by highly polymorphic cytochrome P450 enzymes, specifically CYP2D6 and CYP2C19. This can lead to variable dose-response outcomes, especially among older African American population.

Objective: Analyze the frequency of CYP2D6 and CYP2C19 polymorphisms in African American older adults who are taking SSRIs and identify potential inappropriate use of SSRIs in these older adults using the …


Post-Mortem Brain Nuclei Isolation For Single Nucleus Rna Sequencing, Charles J. Tran, Lin Y. Xie, Min Zhao, Edwin Jcg Van Den Oord, Karolina A. Aberg Jan 2021

Post-Mortem Brain Nuclei Isolation For Single Nucleus Rna Sequencing, Charles J. Tran, Lin Y. Xie, Min Zhao, Edwin Jcg Van Den Oord, Karolina A. Aberg

Undergraduate Research Posters

Abstract

Post-Mortem Brain Nuclei Isolation for Single Nucleus RNA Sequencing

Charles Tran, Dept. of Biology, with Dr. Karolina Aberg, VCU School of Pharmacy

When tissue samples are studied in bulk without consideration for different cell proportions and types, results can be biased due to the attenuation of unique cellular expressions. In order to study cell type specific RNA expression profiles within tissue, single cell RNA sequencing (scRNA-seq) is used. For scRNA-seq studies it is critical to have intact cells. However, when investigating frozen post-mortem brain tissue, it is often challenging to isolate intact whole cells. An alternative solution is to …