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Genetics Of Pediatric Musculoskeletal Disorders, Lilian Antunes Jan 2021

Genetics Of Pediatric Musculoskeletal Disorders, Lilian Antunes

Arts & Sciences Electronic Theses and Dissertations

Pediatric musculoskeletal disorders are an extremely broad category of diseases that are often inherited. While individually rare, collectively these disorders are common, affecting around 3% of live births in the US. Despite the mounting clinical and molecular evidence for a genetic etiology, the cause for many patients with pediatric musculoskeletal disorders remain largely unknown. Major challenges in rare pediatric diseases include recruiting large numbers of patients and determining the significance and functional impacts of variants associated with disease within individuals or families. Whole exome sequencing (WES) is a powerful tool to identify coding variants that are associated with rare pediatric …


Machine Learning Morphisms: A Framework For Designing And Analyzing Machine Learning Work Ows, Applied To Separability, Error Bounds, And 30-Day Hospital Readmissions, Eric Zenon Cawi Jan 2021

Machine Learning Morphisms: A Framework For Designing And Analyzing Machine Learning Work Ows, Applied To Separability, Error Bounds, And 30-Day Hospital Readmissions, Eric Zenon Cawi

McKelvey School of Engineering Theses & Dissertations

A machine learning workflow is the sequence of tasks necessary to implement a machine learning application, including data collection, preprocessing, feature engineering, exploratory analysis, and model training/selection. In this dissertation we propose the Machine Learning Morphism (MLM) as a mathematical framework to describe the tasks in a workflow. The MLM is a tuple consisting of: Input Space, Output Space, Learning Morphism, Parameter Prior, Empirical Risk Function. This contains the information necessary to learn the parameters of the learning morphism, which represents a workflow task. In chapter 1, we give a short review of typical tasks present in a workflow, as …