In our journey to impact on patients' lives, we currently have an open position in the bioinformatics and data science department of SOPHiA GENETICS in Boston, USA, to work on "pipeline development", i.e. on designing workflows to accurately and efficiently process large NGS datasets produced in the clinical context in order to diagnose genomic alterations.
As a Bioinformatician for the pipeline development team you will create, optimize, and maintain analysis pipelines for large gene panels (e.g., whole exome). You will do exploratory analyses and leverage data science to assess and improve the analytical performance of our pipelines.
You will focus in particular on the integration of specialized, cutting-edge analyses such as somatic variant analysis, tumor/normal comparisons, CNV detection, RNA fusion detection, TMB analysis, and MSI detection.