Our research focuses on the regulation of iron metabolism in human cells. Iron is an import cofactor but is toxic at high concentrations. Accordingly, its absorption is tightly regulated. The transferrin receptor (TFR1) is responsible for iron absorption into mammalian cells. In high iron conditions, the TFR1 mRNA is degraded by an unknown endonuclease. Our goal is to determine the identity of this endonuclease.

My primary roles were analysis and cleanup of a data set of copy number variants (CNVs) in human patients. I built a bioinformatics pipeline in Python in order to automate various file input and output operations. CNVs are inherently more complicated than sequence variants (ie. SNPs or indels), which meant that a major challenge of the project was stratifying complex cases and optimizing data representation. I presented descriptive statistics of the dataset to the doctorate geneticists within the company at the end of the summer. Over winter break, I returned to Prevention Genetics for two weeks in order to re-rerun some analyses and help prepare for publication.