We currently have 3 positions open in the bioinformatics and data science department of SOPHiA GENETICS in St. Sulpice/Lausanne, Switzerland. The three persons we are looking for will 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.
- to create, optimise, and maintain analysis pipelines for large gene panels (e.g., whole exome)
- to do exploratory analyses and leverage data science to assess and improve the analytical performance of our pipelines
- one of the three positions will focus in particular on the integration of specialised, cutting-edge analyses such as somatic variant analysis, tumor/normal comparisons, CNV detection, TMB analysis, and MSI detection
- to assist in the setup and maintenance of CNV detection modules for a wide range of bioinformatic solutions
- to implement solutions that meet the particular challenges associated with the analysis of very large data sets (e.g. entire Novaseq runs), in particular in terms of run time and resource usage
- to perform benchmarking