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Analytical, Diagnostic and Therapeutic Techniques and Equipment Commons™
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Articles 1 - 4 of 4
Full-Text Articles in Analytical, Diagnostic and Therapeutic Techniques and Equipment
Identification And Molecular Analysis Of Dna In Exosomes, Jena Tavormina
Identification And Molecular Analysis Of Dna In Exosomes, Jena Tavormina
Dissertations & Theses (Open Access)
Exosomes are heterogeneous nanoparticles 50-150nm in diameter. Exosomes contain many functional cargo components, such as protein, DNA, and RNA. While protein and RNA exosome content has been extensively studied, very little work has been done to characterize exosomal DNA. Here, we demonstrate that exosomal DNA is heterogeneous and its packaging into exosomes is dependent on the cell of origin. Furthermore, through a rigorous assessment of various isolation methods, we identify Size Exclusion Chromatography (SEC) as the best method for the isolation of exosomal DNA for downstream applications. Additionally, we evaluate the methylation status of exosomal DNA and demonstrate that exosomal …
Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre
Predicting Premature Birth Risk With Cfrna, Jason Lin, Jonathan Marin, John Santerre
SMU Data Science Review
Identifying which genes are early indicators for preterm births using cell-free ribonucleic acid (cfRNA) from non-invasive blood tests provided by pregnant women can improve prenatal care. Currently, there are no medical tests for early detection of preterm birth risk in routine checkups for pregnant women. Recent studies have shown potential genes that can predict preterm birth. Machine learning techniques are utilized to see if the Area Under the Curve (AUC) can be improved upon when evaluating the prediction accuracy for chosen genes sequences and concentrations. Using cell-free RNA data from non-invasive blood tests in conjunction with machine learning, we improve …
Improving The Genetic Diagnosis Of Familial Hypercholesterolemia, Michael Iacocca
Improving The Genetic Diagnosis Of Familial Hypercholesterolemia, Michael Iacocca
Electronic Thesis and Dissertation Repository
Familial hypercholesterolemia (FH) is a genetic disorder of severely elevated low-density lipoprotein (LDL) cholesterol that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. I describe three main ways providing a genetic diagnosis in FH can be improved. First, next-generation sequencing (NGS)-based approaches can be used to reliably identify large-scale variant types known as copy number variations (CNVs) in the LDL receptor gene (LDLR); second, NGS methodology can be further applied to extend CNV screening to …
Genomic Prediction Of Relapse In Recipients Of Allogeneic Haematopoietic Stem Cell Transplantation., J Ritari, K Hyvärinen, S Koskela, M Itälä-Remes, R Niittyvuopio, A Nihtinen, U Salmenniemi, M Putkonen, L Volin, T Kwan, T Pastinen, J Partanen
Genomic Prediction Of Relapse In Recipients Of Allogeneic Haematopoietic Stem Cell Transplantation., J Ritari, K Hyvärinen, S Koskela, M Itälä-Remes, R Niittyvuopio, A Nihtinen, U Salmenniemi, M Putkonen, L Volin, T Kwan, T Pastinen, J Partanen
Manuscripts, Articles, Book Chapters and Other Papers
Allogeneic haematopoietic stem cell transplantation currently represents the primary potentially curative treatment for cancers of the blood and bone marrow. While relapse occurs in approximately 30% of patients, few risk-modifying genetic variants have been identified. The present study evaluates the predictive potential of patient genetics on relapse risk in a genome-wide manner. We studied 151 graft recipients with HLA-matched sibling donors by sequencing the whole-exome, active immunoregulatory regions, and the full MHC region. To assess the predictive capability and contributions of SNPs and INDELs, we employed machine learning and a feature selection approach in a cross-validation framework to discover the …