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Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.

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Showing 1 to 20 of 66 for “"Whole genome sequencing (WGS)"”.

  1. Genetic Sequencing in Healthy Populations

    Sells, Samantha E.Wake Forest University2018

    After the success of the Human Genome Project, genetic sequencing technology has improved exponentially. Consumers can now have parts of their genome sequenced for under $100. Genetic sequencing in this direct-to-consumer (DTC) setting comes with many ethical problems that, despite being brought to …

    wfu Repository record

  2. FUNCTIONAL ROLE OF NON-CODING REGULATORY VARIANTS IN NEUROBLASTOMA

    TIRELLI, MATILDEUniversità degli Studi di Milano2024

    … is challenging. In our recent work, whole-genome sequencing (WGS) data from 151 neuroblastoma primary tumours identified two clusters of non-coding Single Nucleotide Variants (SNVs) in two distinct cis-Regulatory Elements specifically active in neuroblastoma (aCREs), denominated …

    milano Repository record

  3. The Application of Chaos Game Representations and Deep Learning for Grapevine Genetic Testing

    Vu, AndrewBrock University2024

    … based on genetic testing, we explored a whole genome sequencing (WGS)-based approach by taking advantage of the latest next-generation sequencing technologies (NGS) for achieving the best accuracy and better availability at affordable cost. To address the challenges of the extremely high …

    brock Repository record

  4. A new filtering method for improving the quality of variant discovery

    Zhang, ChuanyiUniversity of Illinois at Urbana-Champaign2020

    … characteristics). For the analysis, we used Whole Genome Sequencing (WGS) human datasets for which the gold standards are available. We show on these data that the proposed filtering tool Variant Ensemble Filter (VEF) consistently outperforms VQSR and HF. In addition, we show that VEF …

    uiuc Repository record

  5. Mutational Landscape of Noncoding Ultraconserved Elements in Human Cancers: Functional Relevance and Clinical Utility

    Bayraktar, Recep, <p>0000-0002-8227-2055</p>2025

    … this thesis, we perform a systematic analysis of whole-genome sequencing (WGS) data from the International Cancer Genome Consortium (ICGC) and in-house targeted sequencing of 13,736 UCEs and demonstrate that ncUCE somatic alterations are pervasive. Using a genome-wide multiplexed CRISPR knockout …

    uthsc Repository record

  6. Estimating telomere length from whole genome sequencing data

    Farmery, James Henry RoystonUniversity of Cambridge2018

    … and Parabam, as well as their applications to whole genome sequencing (WGS) data. Telomerecat is a tool for estimating telomere length from WGS data. The strength of Telomerecat lies in its applicability. This applicability is due to a number of advantages over previous attempts to estimate …

    cambridge Repository record

  7. Jautienoje aptiktų Šiga toksiną išskiriančių Escherichia coli identifikavimas ir genominė analizė /

    Dapkutė, Viktorija,Institutional Repository of Vilnius University2024

    … frozen minced beef for hamburgers. Analysis of sequencing data identified 2 Stx1 subtypes (a and c) and 6 Stx2 subtypes (a, b, c, d, e, f). Eight strains were found to produce the Stx2a toxin, which is considered the most toxic and is associated with severe forms of the disease. The analyzed …

    vilnius Repository record

  8. Rifampicin-resistant Mycobacterium tuberculosis: an emerging threat to human health in Botswana

    Mogashoa, TueloStellenbosch : Stellenbosch University2026

    … at a national scale. In this study, we utilised whole-genome sequencing (WGS) in conjunction with routinely collected clinical data to characterise the population structure of circulating Mycobacterium tuberculosis (Mtb) strains, investigate transmission dynamics and assess treatment outcomes. …

    stellenbosch Repository record

  9. The role of international ‘high-risk clones’ in the emergence of metallo-b-lactamase-producing pseudomonas aeruginosa in the UK

    Wright, Laura L.University of East Anglia2015

    … in representatives of STs 111, 233 and 235 using whole genome sequencing (WGS) methods. SNP analysis achieved greater discrimination among MBL-producing representatives of STs 111 and 235. CRISPR-Cas bacterial defence systems were absent from all sequenced representatives of STs 111 and 235 but …

    east-anglia Repository record

  10. Hybridization And Introgression In Marine Invertebrates: Population Genomics Of Phymactis Papillosa And Asterias Sea Stars

    Dookie, Christopher J2026

    … marine invertebrates (Sanford & Kelly,2011) yet genome-wide investigations of gene flow in these taxa remain limited relative to vertebrate systems (Marchi et al., 2021). This thesis presents genomic analyses of hybridization and introgression in two marine invertebrates occupying contrasting …

    cuny Repository record

  11. Elucidating the genetic aetiology of Bipolar Disorder

    Engelbrecht, Hannah-RuthDivision of Human Genetics2018

    … the use of small-scale next generation sequencing (NGS) of family members affected with BD and extending the finding of variants to larger scale association studies, and an attempt at replicating associations from a large genome-wide association study. Methods and Materials: This thesis …

    cape-town Repository record

  12. Genetic diversity of sars-cov-2 in southern province of Zambia.

    Katowa, BenThe University of Zambia2022

    … transported to Macha Research Trust (MRT) for Whole Genome Sequencing (WGS). Detection of the SARS-CoV-2 genome was done using the CDC protocol (Lu et al., 2020). The Oxford Nanopore and Nextseq illumina platforms were used for WGS. From the 198 samples collected, a total of 40 whole genomes …

    zimbabwe Repository record

  13. Genetic diversity of sars-cov-2 in southern province of Zambia.

    Katowa, BenThe University of Zambia2022

    … transported to Macha Research Trust (MRT) for Whole Genome Sequencing (WGS). Detection of the SARS-CoV-2 genome was done using the CDC protocol (Lu et al., 2020). The Oxford Nanopore and Nextseq illumina platforms were used for WGS. From the 198 samples collected, a total of 40 whole genomes …

    zambia Repository record

  14. A genome wide approach to identify factors asociated with vancomycin non-susceptibility in Staphylococus aureus

    Shurko, James Frederick2019

    … clinical impact of these infections. Further, whole genome sequencing (WGS) offers a tool to identify factors such as multi locus sequence types (MLSTs) or single nucleotide polymorphisms (SNPs) that may aid in identifying or predicting the presence of hVISA. This study therefore utilized a …

    tdl Repository record

  15. Molecular diagnosis in inherited polycystic kidney disease

    Mallawaarachchi, AmaliUNSW, Sydney2019

    … disease gene (PKD1). This thesis addresses the sequencing and variant interpretation challenges encountered in the molecular diagnosis of PKD. In addition, mechanisms of cyst formation are explored. These studies demonstrate that Whole Genome Sequencing (WGS) is able to overcome pseudogene …

    unsw Repository record

  16. A genome wide approach to identify factors asociated with vancomycin non-susceptibility in Staphylococus aureus

    Shurko, James FrederickThe University of Texas at Austin2019

    … clinical impact of these infections. Further, whole genome sequencing (WGS) offers a tool to identify factors such as multi locus sequence types (MLSTs) or single nucleotide polymorphisms (SNPs) that may aid in identifying or predicting the presence of hVISA. This study therefore utilized a …

    texas Repository record

  17. Transcription Factor-Centric Approaches to Identify Regulatory Driver Mutations in Cancer

    Zhao, Jingkang2020

    … In recent years, the decreasing costs of DNA sequencing have enabled whole-genome sequencing (WGS) studies of thousands of tumor samples, making it possible to systematically survey non-coding regions for potential driver events. From these studies, millions of somatic mutations in cancer have …

    duke Repository record

  18. ST-1 VISA/DAP-R CA-MRSA INTEGRATED OMICS: A FIRST REPORT OF HYPER-VIRULENCE AND MULTI-DRUG RESISTANT SUPERBUG

    LO VERDE, FLAVIAUniversità degli studi di Catania2020

    … its Genomic and Transcriptomic traits by using Whole Genome Sequencing (WGS), RNA-sequencing (RNA-seq) and Bioinformatics, compared to its VSSA/DAP-S CA-MRSA parental strain. The WGS data were used for Genomic Single-Nucleotide Polymorphism call (SNP call) and to investigate the Virulome and …

    catania Repository record

  19. Genomics Approaches to Improve the Recovery of Bacterial Pathogens in Foods

    Yao, LangCarleton University2024

    … marketplace. Leveraging genomics tools such as whole genome sequencing (WGS) and metagenomics within the domain of food microbiology presents promising opportunities for enhancing diagnostic methods. This thesis demonstrates the value of genomics-based approaches for improving microbiological …

    carleton Repository record

  20. Viral Genomic Integration Analysis using Machine Learning Methods

    ΓΚΙΝΑΙ ΑΡΤΕΜΙΣ, GJINAJ ARTEMIS2026

    … Αλληλούχισης Επόμενης Γενεάς (Next Generation Sequencing - NGS), και συγκεκριμένα μέσω Αλληλούχισης Ολόκληρου Γονιδιώματος (Whole Genome Sequencing - WGS) και Αλληλούχισης Εμπλουτισμού-στόχου (Target Enrichment Sequencing). Οι θέσεις ενσωμάτωσης σχολιάστηκαν γονιδιωματικά (genomic annotation), …

    athens Repository record

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