Senior NGS Bioinformatician Job at Sophia Genetics SA, Boston, MA

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  • Sophia Genetics SA
  • Boston, MA

Job Description

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 is a hybrid opportunity, requiring 3 days onsite at 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, including 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 Our benefits package is comprehensive, but varies internationally in line with local standards and laws. Below is a brief overview: Sickness and Accident coverage through Helsana Meal vouchers at 90 CHF per month 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 Direct interaction and exposure to senior leadership and our executive team locally Location & Contract Location: Rolle, Switzerland / Boston, MA – (Hybrid, 3 days per week) Contract: Permanent Starting Date: ASAP Salary MA Pay Range : USD 71'250‑143'750 (Massachusetts only). 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. It may vary in other locations. 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. #J-18808-Ljbffr

Job Tags

Permanent employment, Contract work, Work at office, Local area, Immediate start, Worldwide, 3 days per week

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