Global ETD Search
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 37 for “"Genomics medicine"”.
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African researchers' perceptions and expectations of the benefits of genomics research in Africa : a qualitative study
Introduction: Genomics research raises a number of ethical, legal and social issues (ELSI), one of which is the concept of benefit sharing. While benefits and benefit sharing are difficult to discuss because of questions on what needs to be shared, with whom and by whom, it cannot be pushed to the …
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Computational Methods for Haplotype-aware De Novo Genome Assembly from Long Reads
… genome assembly, plays a crucial role in genomics, medicine, and many other disciplines, because biological functionalities or phenotypic appearance can differ substantially across different haplotypes. Over the last few years, long-read sequencing technologies such as Pacific Biosciences …
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Multiplexed Crispr Libraries For Cancer Functional Genomics
… We optimized the AsCpf1 protein for functional genomics use and demonstrated that an AsCpf1-based multiplexed library outperforms its monocistronic CRISPR/Cas9 library counterpart with a greatly reduced library size. With this strategy, we constructed the smallest whole-genome CRISPR knock-out …
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Medicina genómica en el diagnóstico de enfermedades raras
En este trabajo de investigación se analizan tres casos clínicos de condiciones raras: una enfermedad de olor inusual con gran afectación en el relacionamiento social de la persona afectada, una familia con neurodegeneración por depósito de hierro en la que se identificó un fenotipo oculto de …
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Production of Extracellular Matrix-Degrading Proteases by a Rat B Cell Line.CRL-1631
Badeaux, K. Production of Extracellular Matrix-Degrading Proteases by a Rat B Cell Line.CRL-1631. Master of Science (Microbiology and Immunology), May 2002. 30 pp., 9 illustrations, 1 table, 16 bibliography titles. Previously B lymphocytes have been reported to accumulate at the site of tumor …
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Discovery and Elucidation of The Fgfr3-Tacc3 Recurrent Fusion In Glioblastoma
<p>Fusion genes occur due to chromosomal instability where two previously separate genes rearrange and fuse together, forming a hybrid gene. The first fusions were reported in leukemias; however, with the advent of more powerful sequencing technologies, fusions have recently been reported in …
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Investigating The Role of Cd109 In Pancreatic Ductal Adenocarcinoma
<p>Pancreatic Ductal Adenocarcinoma (PDAC) is the 3rd leading cause of cancer death in the US. We performed loss of function genomic screening on a cohort of four patient derived PDAC cell populations and our data shows a cell surface receptor CD109 to be a common vulnerability, the biologic role …
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P53 Drives A Transcriptional Program That Elicits A Non-Cell-Autonomous Response and Alters Cell State In Vivo
<p>Cell stress and DNA damage activate the tumor suppressor p53, triggering transcriptional activation of a myriad of target genes. The molecular, morphological, and physiological consequences of this activation remain poorly understood <em>in vivo</em>. We activated a p53 transcriptional program …
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Investigating Invasion In Ductal Carcinoma In Situ With to pographical Single Cell Genome Sequencing
<p>Synchronous Ductal Carcinoma in situ (DCIS-IDC) is an early stage breast cancer invasion in which it is possible to delineate genomic evolution during invasion because of the presence of both in situ and invasive regions within the same sample. While laser capture microdissection studies of …
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Fzd6, Matn2 and Slc25A32, Possible Candidate Genes In Nonsyndromic Cleft Lip and Palate
<p>Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect with a multifactorial etiology. Despite decades of research, the genetic underpinnings of NSCLP still remain largely unexplained. A genome wide association study (GWAS) of a large NSCLP African American family …
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Spectrum and Incidence of Primary and Therapy-Related Hematologic Malignancies In Individuals With Brca1 and Brca2 Pathogenic Variants
<p>Therapy-related myeloid neoplasms (t-MN) are rare and deadly hematologic malignancies that develop following exposure to cytotoxic therapies such as radiation, chemotherapy, and poly (adenosine diphosphate-ribose)-ADP polymerase (PARP) inhibitors. Preliminary evidence suggests that germline …
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Molecular Consequences of High Taz Expression In Gliomas
<p>Diffuse high grade gliomas are complex and lethal neoplasms of the adult central nervous system that are driven by a range of genetic and epigenetic alterations. Molecular classification of these tumors has identified different transcriptional subtypes, the most notable being Proneural (PN) and …
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Evaluating Insurance Approval Rates of Exome Sequencing and Its Effect On Minority Patients' Access to Genetic Care
<p>Exome sequencing (ES) is often a standard step in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other …
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The Experience of having Primary Caregiving Responsibilities for an Adult Sibling with Down Syndrome
<p><strong>Abstract </strong></p> <p><strong>Background: </strong>The current generation of adults with Down syndrome is living longer and is likely to outlive their parents. Siblings have been identified as the likely future caregivers for adults with Down syndrome, yet little is known about what …
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21st century biomedical advances: Technology acceptance and policy preferences
<p>This study investigated the technology acceptance (TA) of 21st century biomedical treatments by adults in the United States. A new TA instrument was created, and two policy measures were assessed: “Who decides?” and “Who pays?” An on-line survey produced 353 usable responses to answer five …
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Statistical Methods For Resolving Intratumor Heterogeneity With Single-Cell Dna Sequencing
<p>Tumor cells have heterogeneous genotypes, which drives progression and treatment resistance. Such genetic intratumor heterogeneity plays a role in the process of clonal evolution that underlies tumor progression and treatment resistance. Single-cell DNA sequencing is a promising experimental …
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Genetic Predictors of Hyperglycemia Due to Hydrochlorothiazide Therapy
<p>Response to pharmacological treatment is variable among individuals. Some patients respond favorably to a drug while others develop adverse reactions. Early investigations showed evidence of variation in genes that code for drug receptors, drug transporters, and drug metabolizing enzymes; and …
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Identification of Cell Signaling Pathway Regulated By Micrornas In Cancer Cells Using A Systems Biological Approach
<p>MicroRNAs (miRNAs) are single-stranded, non-coding RNA molecules that regulate gene expression via imperfect binding of the miRNA to specific sites in the 3' untranslated region of the mRNAs. Because prediction of miRNA targets is an essential step for understanding the functional roles of …
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Using Mouse Models to Define How The P53 R72P Polymorphism Impacts The Adverse Effects of Doxorubicin and Ionizing Radiation
<p>The single nucleotide polymorphism (SNP) at codon 72 of the tumor suppressor gene <em>p53 </em>codes for either an arginine (R) or proline (P) (p53 R72P). This SNP may impact how cells respond to genotoxic insult. Studies in cell culture and in tissues from mouse models of the SNP indicate that, …
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Concomitant Targeting of The Mtor/Mapk Pathways: Novel Therapeutic Strategy In Subsets of Non-Small Cell Lung Cancer
<p>Over the last decade, a paradigm-shift in lung cancer therapy has evolved into targeted-driven medicinal approaches. However, patients frequently relapse and develop resistance to available therapies. Herein, we utilized genomic mutation data from advanced chemorefractory non-small cell lung …
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