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Exploring the Influence of Repetitive Elements on Genomic Landscapes

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Lay summary

Repetitive DNA makes up more than half of our genome and plays a large role in shaping how it’s built and how it works. Due to its repetitive nature, these elements of the genome are often overlooked. We are interested in understanding how these repetitive DNA sequences are connected to cancer and rare disease. Using whole genome sequencing data provided by Genomics England, we aim to search for repetitive elements that differ between healthy individuals, and those with disease. To do this, we will develop a computational workflow to identify and characterize the location of these elements across the human genome. We will also establish relationships between the discovered repeats and disease phenotypes using statistical approaches. By studying where repeats are located in the genome, and how they may be related to disease phenotypes, our research could uncover new markers that help diagnose or potentially treat cancer and other rare diseases.

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