Application Scientist - Bioinformatics
About the job
- A Master’s or PhD in Bioinformatics, Computational Biology, or a related field.
- Hands-on bioinformatics experience, including next-generation sequencing secondary and/or tertiary analysis workflows.
- A solid grasp of variant classification frameworks and bioinformatics and information technology workflows.
- Ability to explain complex bioinformatics and technical infrastructure concepts to researchers, clinicians, and information technology professionals.
- Proficiency in English.
- Strong scientific standards and ability to manage complex data analysis.
- Ability to balance scientific accuracy with pragmatic sales decisions and translate features into customer benefits.
- Strong prioritization and project management skills, with a structured approach to work in a fast-paced environment.
- Availability and willingness to undertake international business travel in the Asia-Pacific region.
- Deliver technical pre-sales demonstrations connecting clinical needs with VarSome Premium, Clinical, and API; own customer evaluations, address variant analysis pain points, and advise on laboratory equipment and system integrations.
- Lead onboarding sessions for geneticists and bioinformaticians and serve as the primary lead for on-premises and private cloud deployments, coordinating storage and network infrastructure specifications between clients and the DevOps team.
- Optimize filtering strategies and automation, and act as a bridge between customer support and stakeholders to support routine operations.
- Gather power-user feedback to inform the product roadmap and develop strategic relationships for conference presentations and technical white papers.
- Partner with Product, Marketing, and Operations colleagues on product-market fit and growth; help growth marketers translate features into benefits for prospects and influence roadmap prioritization.
- Fluency in languages in addition to English, such as Mandarin, Japanese, or Korean.
- Previous experience in a bioinformatics software company or in DevOps/System Administration roles.
- Familiarity with regulated environments, such as IVDR, CLIA/CAP, or similar standards.
- Experience in multicultural environments and/or supporting international customers in a scale-up setting.
About the company
Saphetor provides bioinformatics solutions for analyzing and interpreting large-scale Next-Generation Sequencing (NGS) data in genomics. Its flagship VarSome Suite includes VarSome.com, a free community-driven platform, plus premium extensions VarSome Premium and VarSome Clinical. VarSome Premium adds extra third-party annotation data and features for subscribers, while VarSome Clinical is CE IVD certified and HIPAA compliant for professional use by researchers and clinicians. The company earns revenue through subscriptions and premium features. Saphetor differentiates itself by combining a widely used community platform with clinical-grade tools that support precision medicine, backed by a large global user base and collaborations with over 2,000 organizations. Its goal is to enable accurate genome interpretation and support researchers and clinicians in making informed decisions in precision medicine.
Company Size
51-200
Company Stage
Series A
Total Funding
$5.9M
Headquarters
Lausanne, Switzerland
Founded
2014
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Simplify's Take
What believers are saying
- Esteban Czwan joined as CCO on 5 December 2025, sharpening global sales execution.
- 2026 releases added Variant Explorer, RNA fusion support, and structural-variant improvements.
- Sciencewerke and LongSeq expanded distribution across Southeast Asia and Spain in 2025.
What critics are saying
- Illumina, SOPHiA GENETICS, and Genomenon pressure pricing and win lab evaluations.
- VarSome’s value depends on constant database refreshes; stale annotations destroy clinician trust quickly.
- If distributor-led growth stalls, Saphetor remains a niche platform with limited standalone enterprise power.
What makes Saphetor unique
- VarSome Clinical’s IVDR certification and HIPAA compliance separate it from generic annotation tools.
- VarSome’s community knowledge base spans 140-plus data resources and 500,000 users.
- Saphetor embeds long-read and API workflows into clinical and research pipelines.
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Benefits
Remote Work Options
Hybrid Work Options
Growth & Insights and Company News
6 month growth
-1%1 year growth
-5%2 year growth
-1%Saphetor announces appointment of Esteban Czwan as Chief Commercial Officer. Lausanne, Switzerland, 10th December 2025 - Saphetor SA, a Swiss precision medicine company and creator of the VarSome suite of bioinformatics solutions, today announced the appointment of Esteban Czwan as Chief Commercial Officer, effective 5th December 2025. Esteban will be responsible for global commercial strategy and activity as Saphetor continues its expansion into key markets. "We are all very excited by Esteban's arrival. We are confident that his extensive experience and skills will greatly contribute to our growth and to better outcomes for our customers," said Andreas Massouras, CEO, Saphetor SA. Esteban is a passionate healthcare leader with more than 15 years of experience in genomics, multiomics, and AI-driven clinical decision support systems. During his last position at Centogene as Executive Vice President and General Manager Diagnostics, he led its clinical diagnostics business, securing double-digit growth as a rare disease and oncology service provider until its recent acquisition. Previously, Esteban has held several commercial positions with increasing responsibility at Sophia Genetics, which he helped grow from a promising genomics start-up to a publicly traded company. Esteban also has many years of experience developing and supporting business at in-vitro diagnostics and instrument manufacturers, Devyser and Roche Diagnostics, where he held commercial and customer support roles, respectively. Before joining the healthcare industry, Esteban completed his doctoral research at the German Cancer Research Center, where he investigated methods to stratify cancer patients and predict prognosis based on gene expression data. Previously, he received his Master's in Bioinformatics from Cardiff University and his Bachelor's in Computer Science from the University of Illinois at Springfield. "I am humbled to join such a talented and healthy company, a unique combination in our industry. I thank Andreas for trusting me to lead the commercial organization through the next phase of growth." Esteban Czwan CCO, Saphetor SA. About Saphetor SA Saphetor SA is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge. Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. VarSome.com, a professional community and search engine, is freely accessible, featuring a widely-recognized community-driven knowledge base that enables flexible queries across more than 140 genetic and genomic data resources. VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data-mining and analysis tools. VarSome Clinical is a CE-IVDR-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions. VarSome can also be integrated into existing in-house pipelines via VarSome API through cloud-based or on-premises installations.
LongSeq has been working with Oxford Nanopore Technologies for years, applying long read sequencing to genetically complex clinical cases.
Lausanne-based startup Saphetor SA has obtained European CE mark approval for its VarSome Clinical platform for the automated variant discovery, annotation, and interpretation of Next Generation Sequencing (NGS) data. The approval complies with the European Union’s In-Vitro Diagnostic Medical Devices Regulation (IVDR).Saphetor is a global precision-medicine company dedicated to large-scale identification and interpretation of human genetic variants by leveraging proprietary algorithms and expert domain knowledge. The company developed VarSome, a suite of intuitive and data-driven bioinformatics solutions both for clinicians and researchers. VarSome.com professional community and search engine is freely accessible, featuring a widely recognized community-driven knowledge base that enables flexible queries across more than 140 genetic and genomic data resources from its community of more than 500 000 users worldwide. VarSome Premium and VarSome Clinical are professional editions of VarSome with powerful functionality and further sophisticated data mining and analysis tools. VarSome Clinical is a HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions
EpiCypher announced the development of a fully automated CUT&RUN assay (autoCUT&RUN) for high-throughput mapping of chromatin features.
CRO giant Icon is partnering with Saphetor, which specializes in large-scale identification and interpretation of human genetic variants, to develop new approaches for clinical trials focused on precision medicine and rare diseases.