Saphetor

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.

Saphetor is the creator of VarSome, a suite of intuitive and data-driven bioinformatics solutions for clinicians and researchers. VarSome is powered by a Molecular DB with over 150 integrated and harmonized genomic data sources, linked by AI to over 32 million publications. Thanks to VarSome’s global community of over 600 000, the database is further enriched by additional unique user-generated annotation. Saphetor has developed proprietary algorithms to automate variant classification based on industry-standard ACMG and AMP guidelines for interpretation of germline and somatic variants, as well as CNVs.

The VarSome suite offers solutions for individuals needing a powerful Search tool to support research, professional labs requiring a CE-IVD and HIPAA-compliant platform to analyze DNA sequencing samples, and bioinformaticians wanting to use our API to access our database and classifiers and integrate into existing code.