Saphetor Platform

End-to-End Solution for Next-Generation Sequencing

Our variant analysis platform empowers hundreds of clinicians, molecular geneticists and researchers by providing a feature-rich, validated and clinically certified tool that facilitates accurate diagnosis of diseases that had previously been difficult to identify.

How it works?

Upload FASTQ or VCF

Saphetor accepts FASTQ and VCF files. You can upload the data easily and securely through our web interface or you can harness Saphetor's powerful API for an automated transfer. Once the data are uploaded, you can start the analysis!

Annotation & Classification

Saphetor's robust pipeline is capable of analyzing whole genomes, exomes, and gene panels, for individual samples, trios, families, and cohorts in minutes. Saphetor leverages its own massive cross-referenced knowledge base consisting of 35+ public and licensed databases.

Intuitive Web Portal

Saphetor's feature-rich and intuitive web interface allows you to filter variants according to pathogenicity, ACMG classification, allele frequency, gene list or phenotype, to name a few! Dynamic and algorithmic filters allow you to perform simple or advanced filtering, like segregation analysis, identification of de novo variants or variants in imprinted genes, and much more!

Clinical Report Generation

Once you have narrowed down the list of variants of interest, you can proceed with the generation of the clinical report, which includes all the details of your variants, including literature references and your custom comments. The layout of the report can be fully customized according to your unique branding policy.


End-to-End Solution

Saphetor provides validated and clinically certified genome-scale variant discovery, annotation and classification.

Extensive API

On demand variant and gene data for comprehensive annotations from 35+ constantly updated databases.

ISO 13485

Saphetor's Quality Management System is certified with ISO 13485 (Medical Devices).

Variant Knowledge Base

Cross-referenced data from 35+ genomic databases plus contributions from a 80'000-strong community.

EC 93/42

Saphetor’s Genome Interpreter is CE-Marked according to the requirements of EC 93/42.

Did you know?

  • Precision Contests

    Saphetor's variant discovery rocks! It received top marks in the recent contest organized by the Food and Drug Administration, and it was steadily in the top ranks in all metrics, as in previous precision FDA contests. Those results are a testament of the total commitment of Saphetor's team towards excellence. See results on the FDA site.

  • Variant Discovery

    Saphetor's variant discovery pipelines have been designed to achieve high quality standards, such as reproducibility, sensitivity and precision:

    • Sensitivity: 99.8% for SNVs and 99.5% for indels
    • Precision: 99.8% for SNVs and indels
  • Experts in Big Data

    To date Saphetor has aggregated and cross-referenced over 35 leading databases, representing over 33 billion data points. And we are constantly adding new data resources. But there is more to it: whenever a public database is updated, we quickly make it available for annotation and classification of your variants! 

  • Network of Geneticists

    As Saphetor has been deployed by dozens of institutional customers across many countries, we have an extensive network of molecular geneticists and health care professionals who contribute to the identification of likely causal variants, along with a summary of available therapeutic options, and thus help reach clinical decisions.

Want to see Saphetor in action?

Ask for a free 30-day trial.

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