VarSome Clinical NGS Variant Analysis and Interpretation Platform

VarSome Clinical is a CE-IVDR Class C certified software platform for variant calling, annotation and interpretation of NGS data from gene panels, exomes and whole genomes. It runs germline and somatic pipelines from FASTQ or VCF files, classifies variants under ACMG/AMP and AMP/ASCO/CAP guidelines, and helps molecular geneticists and clinicians reach diagnostic and treatment decisions faster.

Workflow

Upload Your Sample

VarSome Clinical accepts all VCF files and FASTQ files from Illumina, MGI, and Element Biosciences to support variant calling and annotation. We also support multi-sample analyses and long-read VCF files from both PacBio and Oxford Nanopore Technologies. Upload your data through our secure web interface to start your analysis.

Annotation & Classification

Our germline and somatic pipelines can analyze gene panels, exomes, and whole genomes for individual samples, trios, families, and cohorts. VarSome Clinical is powered by a massive cross-referenced knowledge base of 150+ datasources, including ClinVar, gnomAD, OncoKB™, CKB, and offers access to licensed databases.

Interpretation Simplified

Make your results work for you with our intuitive web interface. Filter by pathogenicity, germline or somatic classification, allele frequency, phenotype, and more. Use dynamic and algorithmic filters like Compound Heterozygosity and Phenotype-Driven Variant Prioritization. Or view variants in genomic context with our Sample Viewer.

Generate Custom Reports

Create a fully customisable report for your variants of interest, including the variant details, literature references, and custom comments. We have pre-made drag-and-drop sections and templates to help you get from data to decision faster.

Key Features

Advanced Filtering & Variant Prioritization

Identify key variants quickly with powerful, intuitive filtering capabilities. Apply customizable, dynamic filters like allele frequency, pathogenicity, gene lists, and OncoKB™ based filters. Make use of sophisticated algorithmic filters for complex analyses like compound heterozygous variants, de novo variants from trios, or carrier screening for couples. And prioritize causative variants efficiently with VarSome Picks, our phenotype-driven variant prioritization tool.

Automated ACMG/AMP-based Classification

Our renowned classification engine supports both germline and somatic workflows, with modules based on ACMG/AMP guidelines. Each classification is fully transparent, with guided criteria and clear audit trails. Users can adjust rule strength based on clinical or familial context, giving you control while maintaining consistency. Whether you’re working with inherited disorders or tumor samples, the system adapts to your interpretation framework.

See Your Variants in Context

Our Sample View provides a comprehensive visual inspection of all SNVs, CNVs, and structural variants in your samples, helping you to see your variants in context. Perform multi-sample comparisons for scenarios like tumor-normal, trios, or large cohorts, including region overlap and compound heterozygous analysis. Build an internal sample database for frequency tracking and insights into variant recurrence across samples.

Precision Oncology

For somatic analysis, VarSome Clinical integrates datasets such as COSMIC, OncoKB™, and CKB directly into variant interpretation. You also get access to our somatic classifier, based on AMP/ASCO/CAP guidelines. It supports Fusion Annotation & Visualization, TMB/MSI biomarkers, and provides additional visualization tools, such as IGV, for reviewing variants in context. Users can define custom gene panels per cancer type and gain insight into variant recurrence across multiple samples, helping you see patterns in tumour genomics.

Integration and Deployment Options

VarSome Clinical offers flexible deployment options and seamless integration capabilities to fit your bioinformatics workflow. You can access VarSome Clinical as an online software application with cloud deployments in various regions, including Switzerland, the USA, and Saudi Arabia. VarSome Clinical also lets you build your own database of samples and variants, with the option to share selected variant data with trusted partner institutions.

Regulatory Information

VarSome Clinical is a Class C per Rule 3 of Annex VIII of the Regulation (EU) 2017/746 on in vitro diagnostic Medical Devices (IVDR).

Notified Body: TÜV SÜD Product Service GmbH

Manufacturer: Saphetor EPFL Innovation Park - I, CH-1015 Lausanne, Switzerland

EC Rep: Saphetor Life Sciences Europe, Leocharous 3, 10560 Athens Greece

VarSome Clinical is also HIPAA, ISO 27001 and ISO 13485 compliant.

Ordering Information

Supplied in Israel by Danyel Biotech. Request a quote for your lab's sample volume or number of users.