Application Scientist – Clinical Genomics

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Saphetor

WebsiteLinkedInAll Job Openings

51 - 200 employees

Founded 2014

🧬 Biotechnology

🤖 Artificial Intelligence

☁️ SaaS

Biotechnology • Artificial Intelligence • SaaS

Saphetor is a company that develops the VarSome Suite, an AI-driven set of bioinformatics software tools for large-scale human genome (NGS) data analysis and interpretation for research and clinical use. Their offerings include VarSome. com (a community-driven variant knowledge base and search engine), VarSome Premium (a subscription with enhanced annotations and analytics), VarSome Clinical (a CE‑IVDR-certified, HIPAA-compliant clinical platform with automated variant classification), and VarSome API for integration. Saphetor supports clinicians and researchers with automated, standards-based variant interpretation, extensive aggregated genomic resources, and scalable SaaS delivery.

📋 Description

• Act as the technical “closer” by delivering expert demonstrations that bridge clinical needs with VarSome Premium and Clinical. • Own the customer evaluation process, solve “pain points” around variant analysis, and advise on lab equipment/system integrations. • Lead onboarding sessions for geneticists and bioinformaticians to ensure rapid “time to value”. • Act as the primary lead for on-premises and private cloud deployments, coordinating infrastructure specifications (storage, network) between clients and our DevOps team. • Fine-tune filtering strategies and automation to maximize platform “stickiness” while acting as a high-level bridge between customer support and stakeholders to ensure seamless routine operations. • Systematically gather power-user feedback to influence the product roadmap and cultivate strategic relationships for conference presentations (ESHG, MedTech) and the development of technical white papers. • Partner with Product, Marketing, and Operations to ensure product-market fit and growth.

🎯 Requirements

• A Master’s or PhD in Human Genetics, Laboratory Medicine, Molecular Biology/Pathology, Life Sciences, or related field. • Hands-on experience in clinical genomics workflows, including NGS library preparation, sequencing, and secondary and/or tertiary analysis in a clinical setting. • A solid grasp of variant classification frameworks and a deep understanding of NGS workflows. • The ability to simplify complex clinical genomics and bioinformatics concepts for clinicians, laboratory technicians, researchers, and IT professionals. • Native in Italian. Proficiency in English is a must. • Previous background in a hospital or private laboratory setting interpreting NGS patient cases. • Familiarity with working in regulated environments, such as IVDR, CLIA/CAP, or similar standards. • Proven experience in multicultural environments and/or supporting international customers in a scale-up setting.

🏖️ Benefits

• A competitive compensation package tailored to your unique expertise and professional background. • A remote-first work environment that promotes a healthy work-life balance. • Endless learning opportunities, while transferring new technologies from academics to clinical practice all over the world.