saphetor

Improving health and lives through clarity, collaboration, and confidence

Our Mission

To enable anyone to find, share, and use the most comprehensive human genome data – and to collaborate to improve health and lives around the world.

Who We Are

VarSome brings together data, technology, and a global community to advance genomic interpretation. The platform integrates more than 140 curated databases, including ClinVar, gnomAD, OncoKB™, and more, together with over 4 million scientific publications. Annotation and insights from over 500K VarSome users add further depth and context. These resources are connected through integration algorithms and an AI layer that transforms raw genomic data into structured, clinically meaningful information.

milestones

Our journey so far

2014
Saphetor is launched!
After several years of accumulating the knowledge and a few months of intensive development, the first version of Saphetor is born!
2015
Our team grows!
This is a year of intensive development at Saphetor, based on the feedback we received from the first clients. New features are added every month, our team grows and attends several scientific conferences and technology tradeshows.
2016
VarSome arrives!
Year 2016 marks an important step in the evolution of the portfolio of our solutions: VarSome is born. Since its early days of existence, VarSome has been driven by community feedback.
2017
VarSome get traction!
Over the course of 2017, we were constantly adding new genomic resources to VarSome, reaching over 30 integrated databases by the end of the year. Based on the feedback of our first clients, Saphetor Portal also received a large number of new features.
2018
Growing fast!
2018 is a year of rapid growth both for Saphetor and VarSome. We have signed up several important institutional clients and distribution agreements across many European countries. VarSome continues to experience a double-digit monthly growth.
2019
VarSome Pro
At the beginning of 2019 VarSome global community reaches 100.000 users. In January, we release VarSome Pro, the variant interpretation tool for researchers. We keep constantly adding new genomic resources to VarSome, PMKB being the first this year.
2020
Busy and exciting year!
So far, a year of rapid expansion for VarSome Clinical which is now distributed  across several countries in Asia, Africa, Europe and Australia. In August, VarSome Premium was released providing users premium content and other advantages. VarSome was enriched with additional resources, such as GnomAD Genes, GTEx and dbNSFP.In addition we have expanded into North America with a Boston, MA team so we can continue to serve and grow our community.
2021
The VarSome Community grows
VarSome reached over 400 000 unique users and was referenced in over 1 500 published papers. The platform saw the addition of the AMP Classifier for somatic variants and the CNV ACMG Classifier. Saphetor was recognized as one of the Genomics Startups Changing the Future of Healthcare Forever by Forbes.
2022
VarSome scales with genomic medicine initiatives
VarSome reached over 450 000 unique users and was referenced in over 1 800 published papers. Saphetor is supporting national genomic medicine programmes through new parternships, furthering the adoption of VarSome Clinical as a powerful and scalable platform for NGS data analysis in healthcare settings.

Our Journey So Far

2014-2015

Saphetor is launched! Our team grows and attends several scientific conferences and technology tradeshows, as well as closely working with pioneering clinical geonmics teams in Switzerland. We are busy developing version 1.0 of our platforms with a view of processing whole genomes at scale and cross-referencing every individual’s data with whatever information is known from decades of research and clinical experience, as well as the information that’s yet to come out.

2016-2019

The year 2016 marks an important step in the evolution of the portfolio of our solutions: VarSome is born. We started adding new genomic resources to VarSome, signed up several important institutional clients and distribution agreements across many European countries, and reached 100,000 users by the end of 2019.

2020-2022

Busy and exciting years! We expanded our network in North America, Asia, Africa, Europe, and Australia. The platform saw the addition of the AMP Classifier for somatic variants and the CNV ACMG Classifier. Saphetor was recognized as one of the Genomics Startups Changing the Future of Healthcare Forever by Forbes. By 2022, VarSome reached over 450,000 unique users and was referenced in over 1,800 published papers.

2023-Present Day

VarSome has integrated over 140 data sources, making it the world's largest integrated genomic knowledgebase, with more than 500,000 users globally. We started our IVDR certification processes, and by 2024, we were one of the first companies in the industry to receive IVDR Certification for our clinical diagnosis support NGS data analysis platform, VarSome Clinical, ensuring enhanced safety and performance standards.

What We Do

At Saphetor, we develop platforms that make genomic data clear, consistent, and actionable.  

  • Variant Interpretation: Tools for germline, somatic, and structural variant interpretation aligned with international guidelines.
  • Knowledge Integration: 140+ curated sources updated regularly to reflect the latest clinical and research evidence.
  • Community: A global network of professionals who contribute knowledge, share data, and learn from each other.
  • Flexibility: Secure deployment across global cloud infrastructure or on premises, tailored to institutional needs.

Our Values

  • Clarity: Transparent evidence and guideline-driven classification
  • Collaboration: A community where knowledge sharing strengthens interpretation.
  • Confidence: Compliance with international standards, including CE-IVDR Class C Certification
  • Impact: Every interpretation supports patients, families, and scientific progress.

Our Network

Saphetor partners with hospitals, laboratories, and life sciences organizations around the world, ensuring our platforms remain grounded in real clinical and research needs.

Our Team

Prof. Alexandre Reymond, PhD
President of the European Society of Human Genetics; Director, Center for Integrative Genomics, University of Lausanne, Switzerland
Prof. Vladimir Katanaev, PhD
Associate Professor of Pharmacology and Toxicology, Faculty of Biology and Medicine, University of Lausanne
Prof. Zoltán Kutalik, PhD
Associate Professor in Medical Genetics at CHUV, the University Hospital of Lausanne, and the Institute of Social and Preventive Medicine, Lausanne
Steven Harrison, PhD
Associate Director, Clinical Research Sequencing Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA
Joerg Heyer, PhD
Head of Clinical Somatic Variant Curation, Sema4, Stamford, Connecticut, USA