Advanced sequencing techniques changed our understanding of how tumours develop and differentiate. NGS technologies allowed to carry trials in which treatment options are guided by genomic characterization of their tumours. However, interpretation of the many events seen in tumour genomes presents a key challenge. Furthermore, cancer evolves under the selection pressure of drug treatment which leads to the presence of very rare or unique somatic events that need to be captured.
Two years of the Lab and AstraZeneca collaboration resulted in development of several pipelines for analyzing cancer genome data, including a tool for capture panel evaluation (TargQC), mutation prioritization and interpretation framework, sequencing data pre-analysis QC tool (PreQC), clinical reporting framework. Those tools were extensively used in production and scientific studies, and enabled discovery of TAGRISSO, a lung cancer drug, which was recently approved by FDA.