Bachelor's Thesis

Abstract

Telomeres are regions of repetitive DNA sequences located at the end of chromosomes which are important in ageing and cancer. The aim of this study is to determine if there is a difference in telomere length between exomes of bladder cancer and matched control samples from the same patients and to investigate any mutations responsible for these differences. While the exome data used was from a previous study, the data is used here to answer a relatively unexplored research question using computational techniques. Whereas other studies have predominantly used experimental techniques to measure telomere length in bladder cancer, which is still poorly understood. The program TelSeq was used to estimate telomere length for bladder cancer and matched blood control samples, from 9 different patients, and the online tool VEP was used to generate variants in the samples. There were more high-impact variants in the cancer samples compared to the control samples than expected by chance and high-impact mutations were found in genes such as TP53, TERT and DKC1. No significant difference was found between telomere length of matched bladder cancer and control samples from the same patient. It was also found that telomere length does not depend on age. However, as this contradicts the wider literature more work needs to be done to confirm this. Overall, despite more genetic variation in bladder cancer tumours, this does not appear to affect the telomere length. Finally, improving the understanding of telomeres is important to help in beating cancer and increasing human longevity.

Type
Academia Aging Bioinformatics Data Science DNA Machine learning Python Research SNPs analysis Variant calling
Phil Palmer
Bioinformatician PhD Student

My research interests include bioinformatics, machine learning and viral genomics.