Evaluation of pharmacogenomics variants from genome sequencing data

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.