Senior NGS Bioinformatician

SOPHiA GENETICS

Rolle, Switzerland

Your Mission

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 gene content, 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.

The value you bring

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.

Requirements

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.