VarSome empowers your research and development by delivering comprehensive variant annotation to uncover new targets and biomarkers, and to deepen your understanding of disease biology. Across the pipeline, VarSome supports prevalence studies, clinical planning, recruitment, and even post-market adoption; helping you accelerate the journey from discovery to therapy.
Explore Insights
At the earliest stages, you need to understand the genetic basis of disease and identify promising biomarkers. Use VarSome Premium & API to explore genes, assess biomarkers, and generate early evidence.
Once potential biomarkers are identified, the focus shifts to patient data. Rely on VarSome Clinical to classify and interpret variants at scale.
When moving from research to clinical development, accurate prevalence estimates and site mapping are essential. VarSome Insights helps you estimate prevalence, identify study regions, and plan resources with data-driven insights.
Recruitment and site selection are often the biggest hurdles in rare disease and oncology trials. Accelerate enrollment and optimize site selection with real-world data.
Even after regulatory approval, awareness and adoption can make or break a therapy’s impact. Support awareness, track ongoing cases, and generate real-world evidence for approved therapies.
Saphetor helps life sciences teams accelerate the journey from discovery to therapy. VarSome Premium and API support early research and biomarker exploration, while VarSome Clinical delivers clinical-grade interpretation and cohort analysis to guide development. With VarSome Insights, teams can estimate prevalence, identify study regions, optimize trial recruitment, and continue to track adoption and generate real-world evidence post-approval.
Travere Study: In a global study of cerebrotendinous xanthomatosis (CTX), researchers used VarSome Insights to access real‐world search patterns from clinicians. This enabled them to map variant prevalence and geographic distribution of CYP27A1, highlighting regions where CTX may be underdiagnosed. The results helped improve understanding of disease burden worldwide.
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Aceragen Study: Aceragen combined traditional prevalence mapping with VarSome Insights search data for the ASAH1 gene. Insights not only confirmed known cases but also revealed previously unreported ones worldwide, delivering broader coverage and faster results.
“Traditional prevalence efforts are usually a costly and timely endeavor. Inferred prevalence may circumvent this spend during early development efforts.” Aceragen
Saol Therapeutics, trial enrolment: Using VarSome Insights, Saol Therapeutics was able to reach out to clinicians in relevant regions and accelerate clinical trial enrollment, facilitating connections with potential participants based on variant‐search activity.
“We had another person agree to participate in our clinical trial. That’s a great record of success.” Saol Therapeutics.
