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Full-Text Articles in Biostatistics

Multi-Omics Integration For Gene Fusion Discovery And Somatic Mutation Haplotyping In Cancer, Steven Mason Foltz May 2020

Multi-Omics Integration For Gene Fusion Discovery And Somatic Mutation Haplotyping In Cancer, Steven Mason Foltz

Arts & Sciences Electronic Theses and Dissertations

Cancer is a disease caused by changes to the genome and dysregulation of gene expression. Among many types of mutations, including point mutations, small insertions and deletions, large scale structural variants, and copy number changes, gene fusions are another category of genomic and transcriptomic alteration that can lead to cancer and which can serve as therapeutic targets. We studied gene fusion events using data from The Cancer Genome Atlas, including over 9,000 patients from 33 cancer types, finding patterns of gene fusion events and dysregulation of gene expression within and across cancer types. With data from the CoMMpass study (Multiple …


Predicting Disease Progression Using Deep Recurrent Neural Networks And Longitudinal Electronic Health Record Data, Seunghwan Kim May 2020

Predicting Disease Progression Using Deep Recurrent Neural Networks And Longitudinal Electronic Health Record Data, Seunghwan Kim

McKelvey School of Engineering Theses & Dissertations

Electronic Health Records (EHR) are widely adopted and used throughout healthcare systems and are able to collect and store longitudinal information data that can be used to describe patient phenotypes. From the underlying data structures used in the EHR, discrete data can be extracted and analyzed to improve patient care and outcomes via tasks such as risk stratification and prospective disease management. Temporality in EHR is innately present given the nature of these data, however, and traditional classification models are limited in this context by the cross- sectional nature of training and prediction processes. Finding temporal patterns in EHR is …