The Senior NGS Bioinformatician will lead NGS data analysis, product development, and statistical studies for various cancer and rare disease projects.
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.
Our Mission
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.
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
Requirements
Benefits
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:
Our benefits package is comprehensive, but varies internationally in-line with local standards and laws. You can discuss a full breakdown with us, but as a brief overview:
Our DNA
Like the strands of DNA itself, SOPHiA GENETICS and the team are deeply interconnected and reliant on each other to deliver. There are common threads across the team. Things that bind us together. Those things are Relentless Curious; Resilient & Nimble and Fearlessly Adventurous
Our Virtues
At SOPHiA GENETICS we established our 7 Virtues to clarify how our principles show up each day through action. We Decide; We Do; We Collaborate; We Innovate; We Empower; We Adapt and We Learn.
At the centre of our Virtues is our Mantra, We Care, which provides a constant reminder of the compassionate, benevolent, and hopeful nature of our mission and how it should be threaded through each of our Virtues and everything we do. Learn more about our DNA and Virtues on our Careers portal
Starting Date: ASAP
Location: Rolle, Switzerland / Boston, MA - (Hybrid, 3 Days Per Week)
Contract: Permanent
MA Pay Range: USD 71'250-143'750
Disclaimer: The estimated pay range represents a good faith estimate of what the Company expects to pay a successful applicant for the listed position and applies specifically to candidates based in Massachusetts. Due to various factors, the estimated pay range may vary in other locations. Should the level or location of the role change during the hiring process, the applicable base range may be updated accordingly. Compensation decisions are dependent on several factors including, but not limited to, an individual's qualifications, job related skills, years of experience, location, relevant education or training, internal equity, and alignment with market data. The range does not include benefits, and if applicable, bonus, commission, or equity.
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.
Our Mission
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.
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
Benefits
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 (2022-2025)
- Top 10 European Tech Startup
- Top 10 European biotechs startup to watch
- Top 25 East-Coast Biotech to watch
Our benefits package is comprehensive, but varies internationally in-line with local standards and laws. You can discuss a full breakdown with us, but as a brief overview:
- Sickness and Accident coverage through Helsana
- Meal Vouchers at 90CHF PM with our partner cafeteria
- A fun and engaging work environment, with Rest & Entertainment space, full stocked free coffee machine and free fruit
- Free parking in an easy to access location
- A strong social committee whose purpose is to make SOPHiA GENETICs both enjoyable as well as rewarding
- As our global HQ, you'll have direct interaction and exposure to senior leadership and our executive team locally
Our DNA
Like the strands of DNA itself, SOPHiA GENETICS and the team are deeply interconnected and reliant on each other to deliver. There are common threads across the team. Things that bind us together. Those things are Relentless Curious; Resilient & Nimble and Fearlessly Adventurous
Our Virtues
At SOPHiA GENETICS we established our 7 Virtues to clarify how our principles show up each day through action. We Decide; We Do; We Collaborate; We Innovate; We Empower; We Adapt and We Learn.
At the centre of our Virtues is our Mantra, We Care, which provides a constant reminder of the compassionate, benevolent, and hopeful nature of our mission and how it should be threaded through each of our Virtues and everything we do. Learn more about our DNA and Virtues on our Careers portal
Starting Date: ASAP
Location: Rolle, Switzerland / Boston, MA - (Hybrid, 3 Days Per Week)
Contract: Permanent
MA Pay Range: USD 71'250-143'750
Disclaimer: The estimated pay range represents a good faith estimate of what the Company expects to pay a successful applicant for the listed position and applies specifically to candidates based in Massachusetts. Due to various factors, the estimated pay range may vary in other locations. Should the level or location of the role change during the hiring process, the applicable base range may be updated accordingly. Compensation decisions are dependent on several factors including, but not limited to, an individual's qualifications, job related skills, years of experience, location, relevant education or training, internal equity, and alignment with market data. The range does not include benefits, and if applicable, bonus, commission, or equity.
Top Skills
Analytical Validation Technologies
Ngs Pipelines
Python
R
Rare Disease Technologies
SOPHiA GENETICS Boston, Massachusetts, USA Office
401 Park Drive, Boston, MA, United States, 02215
Similar Jobs at SOPHiA GENETICS
Artificial Intelligence • Big Data • Healthtech • Software • Biotech
The Associate Sales Executive will prospect potential customers, support sales, manage CRM systems, and achieve sales targets while traveling 15-25%.
Top Skills:
Salesforce
Artificial Intelligence • Big Data • Healthtech • Software • Biotech
The Associate Sales Executive will support the sales team by prospecting, engaging with customers, managing CRM systems, and achieving sales targets.
Top Skills:
ClariGoogle AppsGoogle SlidesLinkedInMS OfficeMicrosoft PowerpointSalesforceZoominfo
Artificial Intelligence • Big Data • Healthtech • Software • Biotech
Lead global field marketing teams to drive demand generation and pipeline growth, coordinating with sales and overseeing marketing analytics and budget management.
Top Skills:
Marketing Automation ToolsPardotSalesforceSeo
What you need to know about the Boston Tech Scene
Boston is a powerhouse for technology innovation thanks to world-class research universities like MIT and Harvard and a robust pipeline of venture capital investment. Host to the first telephone call and one of the first general-purpose computers ever put into use, Boston is now a hub for biotechnology, robotics and artificial intelligence — though it’s also home to several B2B software giants. So it’s no surprise that the city consistently ranks among the greatest startup ecosystems in the world.
Key Facts About Boston Tech
- Number of Tech Workers: 269,000; 9.4% of overall workforce (2024 CompTIA survey)
- Major Tech Employers: Thermo Fisher Scientific, Toast, Klaviyo, HubSpot, DraftKings
- Key Industries: Artificial intelligence, biotechnology, robotics, software, aerospace
- Funding Landscape: $15.7 billion in venture capital funding in 2024 (Pitchbook)
- Notable Investors: Summit Partners, Volition Capital, Bain Capital Ventures, MassVentures, Highland Capital Partners
- Research Centers and Universities: MIT, Harvard University, Boston College, Tufts University, Boston University, Northeastern University, Smithsonian Astrophysical Observatory, National Bureau of Economic Research, Broad Institute, Lowell Center for Space Science & Technology, National Emerging Infectious Diseases Laboratories

