The core activity of Saphetor is the development and provision of bioinformatic tools for the processing and interpretation of Next-Generation Sequencing (NGS) data, particularly in the field of human genomics. The company focuses on the analysis and interpretation of large amounts of genetic data to gain valuable insights for research and medical practice.
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Offering
Products & services
Industry:Research & Development
✓ Offered8
Genome annotation and interpretation (VarSome)
Genome-scale NGS data annotation and interpretation, including variant calling, classification, visualisation, evidence search, and report generation for clinical and research workflows.
Clinical NGS analysis for germline variants (VarSome Clinical)
IVDR-certified platform for clinical NGS analysis, variant classification, annotation, interpretation, cohort analysis, and reporting in labs, hospitals, and care centres.
Somatic cancer genomics analysis
Analysis of tumour sequencing data with variant and biomarker classification, evidence integration, therapy and trial assignment, and support for hospitals, cancer centres, pharma, and biotech.
Germline variant analysis for rare and common diseases
Detection and interpretation of causative variants for clinical labs, hospitals, and researchers, with guideline-based classification, prioritisation, and evidence-supported analysis.
Life sciences insights for research and development
Support for discovery, translation, cohort analysis, prevalence estimation, study planning, recruitment, and post-marketing using real search data and clinical analysis.
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