Access to VarSome Clinical

VarSome Clinical is the end-to-end bioinformatics solution for processing and interpretation of your NGS data

Product Description

VarSome Clinical is a CE IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels. VarSome Clinical helps molecular geneticists and clinicians increase the diagnostic yield and support treatment decisions for genetic conditions.

VarSome Clinical is a productivity tool allowing your bioinformatics team

  • to be more productive & systematic
  • to focus the energy where it is really needed
  • to deliver quality results quickly

Designed for high quality standards

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

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. These results are a testament to the VarSome team's total commitment to excellence.

  • Sesitivity: 99,8% for SNVs and 99,5% for indels
  • Precison: 99,8% for SNVs and indels

Experts in Big Data

To date VarSome has aggregated and cross-referenced 100+ leading databases and other data resources, representing over 33 billion data points, and new ones are added constantly over time. But there is more to it - whenever a data resource is updated, VarSome quickly makes it available for annotation and classification of your variants!

Network of Geneticists

As VarSome Clinical has been deployed by dozens of institutional customers across many countries, you can benefit from VarSome's 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.

How does VarSome Clinical work?

1. Upload FASTA or VCF

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

  • Annotate FASTQ
  • Annotate VCF
  • Joint Calling
  • Multi-Sample Analysis

2.Annotation & Classification

VarSome Clinical's robust pipeline is capable of analyzing gene panels, exomes, and whole genomes for individual samples, trios, families, and cohorts in just minutes. VarSome Clinical leverages the massive cross-referenced knowledge base of the free platform, and also offers access to licensed databases.

  • 100+ Data Resources
  • ACMG Classification
  • Proprietary Data Resources
  • Quality Control Reports

3. Intuitive Web Portal 

VarSome Clinical's feature-rich and intuitive web interface allows for variant filtering according to pathogenicity, ACMG classification, allele frequency, gene list or phenotype, and many more. 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.

  • Dynamic Filters
  • Algorthmic Filters
  • Sample Cross-Referencing
  • Variant Sharing

4. Clinical Report Generation

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

  • Customizable Reports
  • CE-IVD Certification
  • Audit Trail

Learn more in the VarSome Clinical Video

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you need any help?

Please contact:

Dr. Sieke Schaepe

Tel. +49 (0) 6221 71415 16