Author

Pavithra Raju

Publication Date

Fall 2023

Degree Type

Master's Project

Degree Name

Master of Science in Bioinformatics (MSBI)

Department

Computer Science

First Advisor

Leonard Wesley

Second Advisor

Philip Heller

Third Advisor

William Andreopoulos

Keywords

Pancreatic ductal adenocarcinoma, copy number variations, epigenetic factors, epigenetic pipeline, CNV modified sequence.

Abstract

Pancreatic ductal adenocarcinoma (PDAC) is a formidable challenge in oncology due to its aggressive form and late-stage detection. PDAC is known to be influenced by various epigenetic factors like DNA methylation and histone modifications. This study focuses on copy number variations (CNVs) within epigenetic factors which for their role in early diagnosis. Thus, paving the way for identification of potential biomarkers. The epigenetic pipeline was extended based on CNVs and the CNV modified sequences extracted were compared with the wild type sequences of epigenetic PDAC genes. The epigenetic gene KCNJ11 with copy number gain of CNV id 46771406 was used and its CNV modified sequence was compared with wild type sequences of genes RPS2P40, NCR3LG1 and KCNJ11 respectively. This CNV was found to be significant in genes RPS2P40, KCNJ11 and non-significant in gene NCR3LG1.

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