Senior NGS Bioinformatician

SOPHiA GENETICS seeks a Senior NGS Bioinformatician in Rolle, CH, to lead bioinformatics product development for cancer and rare disease diagnostics.

This position sits within the Bioinformatic Product Development team and covers the entire lifecycle of creating bioinformatics products, ranging from initial exploratory research to the development of In Vitro Diagnostic (IVD) and Companion Diagnostic (CDx) solutions. The role aims to generate meaningful biological insights that positively affect patient outcomes globally.

Responsibilities

• Plan and perform analytical and exploratory studies on various Next-Generation Sequencing (NGS) datasets.
• Assess and enhance algorithmic performance across different variant types and sequencing technologies.
• Investigate new sequencing methods and bioinformatics approaches.
• Perform detailed analyses to extract biological insights from complex data.
• Design and statistically evaluate analytical validation studies, including metrics like sensitivity, specificity, precision, accuracy, Limit of Detection (LoD), and Limit of Blank (LoB).
• Prepare documentation for performance evaluations to support IVD/CDx development.
• Develop and maintain production-grade NGS pipelines, ensuring they are robust, reproducible, and performant.
• Support scientific publications, white papers, or conference presentations.
• Collaborate with external partners on project planning, data analysis, and result presentation.
• Handle diverse datasets differing in gene content, sample types, enrichment technologies, and sequencing platforms.
• Suggest and implement improvements to probe design, analytical tools, and pipeline architecture.
• Evaluate the analytical performance of SOPHiA GENETICS products.

Requirements

• PhD in Bioinformatics or Computational Biology, or equivalent industry experience.
• At least 5 years of experience in NGS data analysis within academic, biotech, or diagnostic settings.
• 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.
• Excellent communication and presentation skills.
• Fluency in English is required.

Nice to have

• Experience with workflow management systems like Nextflow.
• Knowledge of additional languages beyond English.
• Background in hematologic cancer biology.
• Experience with RNA or transcriptomic analysis.
• Experience in in vitro diagnostic development.
• Skills in designing and statistically analyzing analytical performance studies.

What the company offers

• Sickness and Accident coverage through Helsana.
• Meal Vouchers at 90 CHF per month via the partner cafeteria.
• Access to a Rest & Entertainment space.
• Free coffee and fruit in a fully stocked area.
• Free parking in an easily accessible location.
• Active social committee.
• Direct interaction with senior leadership and the executive team.

About the company

SOPHiA GENETICS is recognized as one of the world's most innovative and smart companies, driven by a patient-centric purpose. The organization fosters a compassionate and hopeful culture, encapsulated by the mantra 'We Care'. The team is deeply interconnected, relying on collaboration to deliver results, and embodies core values such as being relentlessly curious, resilient, nimble, and fearlessly adventurous.

• Patient at the heart of every decision.
• Deeply interconnected team reliant on each other.
• Core values: Relentless Curious, Resilient & Nimble, Fearlessly Adventurous.
• Seven Virtues: We Decide, We Do, We Collaborate, We Innovate, We Empower, We Adapt, We Learn.
• Mantra: We Care (compassionate, benevolent, hopeful).
• Recognized as one of the world's most innovative and smartest companies.