Senior NGS Bioinformatician

Are you an experienced Bioinformatician specializing in NGS data analysis? Ready to take on impactful new projects at the forefront of precision medicine?

If this sounds like you and you are driven by purpose, join the SOPHiA GENETICS Bioinformatic Product Development team as our
Senior NGS Bioinformatician
, and enable us to make a positive impact on the outcomes for cancer and rare disease patients worldwide.

This role is a hybrid opportunity, requiring 3 days onsite our corporate office in Rolle, CH or Boston, MA.

We believe there is a smarter, more data-driven way to make decisions in healthcare and our cloud-native AI powered SOPHiA DDM Platform makes that vision a reality on a daily basis. You will have direct input to our mission to democratize data-driven medicine for the ultimate benefit of cancer and rare disease patients across the globe.

As our
Senior NGS Bioinformatician
, your role will span the full lifecycle of bioinformatics product development - from exploratory research and feasibility studies to analytical validation and IVD/CDx development under regulated frameworks.

You will operate in two complementary modes:

• Research & Innovation:
  Explore novel technologies, biological questions, and new analytical approaches
• Product & Regulatory Development:
  Design and analyze analytical performance studies supporting IVD/CDx and biopharma projects

You will lead data exploration efforts to address practical questions that arise during product development. You will work with diverse datasets that vary by genecontent, sample type, enrichment technology, sequencing platform, and more. Working closely with NGS laboratory scientists, your work will involve exploring and assessing the analytical performance of SOPHiA GENETICS products and conducting in-depth, product-focused analyses. Your insights will directly contribute to the evolution of our products.

This may include proposing and implementing improvements to probe design, analytical tools (pipeline modules), and overall pipeline architecture. Your responsibilities will evolve based on your expertise and the strategic priorities of ongoing research, biopharma, and IVD/CDx projects.

• Design and execute analytical and exploratory studies across diverse NGS datasets
• Evaluate and improve algorithmic performance across variant classes and technologies
• Explore emerging sequencing technologies and bioinformatics methods
• Conduct deep-dive analyses to generate biological insights from complex datasets
• Design and statistically analyze analytical validation studies (sensitivity, specificity, precision, accuracy, LoD, LoB)
• Contribute to performance evaluation documentation supporting IVD/CDx development
• Contribute code to production-grade NGS pipelines, ensuring robustness, reproducibility, and performance
• Contribute to scientific publications, white papers, or conference presentations
• Contribute to projects with external collaborators, including project planning, data analysis and results presentation

• PhD in Bioinformatics / Computational Biology (or equivalent industry experience)
• 5+ years of experience in NGS data analysis in academic, biotech, or diagnostics environments
• Experience analyzing somatic variants (SNVs, indels, CNVs, fusions) in oncology NGS assays
• Experience with targeted panel sequencing and/or hybrid capture technologies
• Strong proficiency in Python and/or R for statistical analysis and data exploration
• Experience working with workflow management systems (e.g., Nextflow or similar) is highly desirable
• Excellent communication & presentation skills (English is a must, any other language is an asset)
• Strongly valued experience:
  • Hematologic cancer biology
  • RNA/transcriptomic analysis
  • In vitro diagnostic development
  • Analytical performance study design and statistical analyses

You will be joining an organization with the patient at the heart of every decision and action, driven by purpose as we pursue exponential growth.

Business recognition and accolades include:

• World's most innovative companies (Top 10)
• World's smartest companies (Top 50)
• 100 Best Places to Work in Boston)
• Top 10 European Tech Startup
• Top…