Background
Despite demonstrated clinical utility and continual decreases in sequencing costs, pharmacogenomics testing in Australia is limited. Although carrier rates vary, it is estimated that up to 99% of individuals tested will carry at least one actionable pharmacogenomics variant.
The project will aim to identify pharmacogenomics variants from the next-generation sequencing data of predominantly individuals presenting for clinical genetic testing relating to their cancer diagnosis.
This project will also make use of large public repositories such as: ClinVar, gnomAD, LOVD. Candidate variants may include those affecting human leukocyte antigen (HLA) sensitivity, drug metabolism, and/or drug targets.
A basic understanding of R and/or Python is preferred.