Human lineage-specific regulation of novel open reading frames in schizophrenia and bipolar disorder - Prabakaran Group, Department of Genetics, University of Cambridge

Jun - Sep 2020

I worked with Dr Sudhakaran Prabakaran and his group to study the genetics of the neuropsychiatric disorders schizophrenia and bipolar disorder during the summer of 2020. Using Python pipelines that I built myself and published packages, including PLINK and INRICH, I used RNA-seq data, genomic coordinates and previous results from the group to identify novel open reading frames that may be subject to human-specific regulation and annotated them as disease-associated based on their enrichment in disease single nucleotide polymorphisms. My findings built on results from previous studies and proposed new genes implicated in schizophrenia and bipolar disorder. They also shone light on genetic commonalities between the two disorders. The remote nature of the project (undertaken during the COVID-19 pandemic) meant that I worked independently, asking questions and solving problems on my own. The project taught me the importance of reproducibility, as I had to replicate and build on some previous work – I made sure that my end-of-project report and the code I left behind was as clear as possible, assuming no prior knowledge of the tools used or the databases accessed. Writing up my work as part of a manuscript taught collaborative skills. I enjoyed addressing reviewers’ comments as I came to appreciate different perspectives on our analysis, highlighting findings I had missed, and also the opportunity to defend my work.

I was chosen to present my work at a student symposium run by science societies at Oxford and Cambridge (Varsity Sci). The talk was not recorded.

I am equal first author on the manuscript that includes this work. The manuscript is currently in peer reveiw at Molecular Psychiatry.