Interpreting genomic variants is one of the most time-consuming and complex tasks in clinical genomics. Each variant must be assessed for its clinical significance using established guidelines (where available), curated databases, and the latest...

VarSome Clinical Oncology Germline

Automated Germline and Somatic Classification

By Jason Armstrong on September 22, 2025

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VarSome Clinical is a CE IVDR-certified, HIPAA-compliant platform for interpreting NGS data. It supports analysis of genomes, exomes, and gene panels from individual samples, trios, families, or cohorts.

VarSome Clinical Oncology Germline

Germline and Somatic Pipelines

By Jason Armstrong on September 22, 2025

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VarSome Clinical offers two types of filtering: algorithmic filters, which run during analysis to prioritize variants, and dynamic filters, which give you flexible control over how results are viewed and explored.Together, they help reduce noise...

VarSome Clinical Oncology Germline

Algorithmic and Dynamic Filters

By Jason Armstrong on September 22, 2025

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VarSome Clinical is designed to process NGS data, from gene panels to whole genomes, and supports FASTQ or VCF files. To effectively use the platform, it's important to understand the data upload methods and the specific requirements for different...

VarSome Clinical

File Uploads - VarSome Clinical

By Jason Armstrong on September 22, 2025

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Tumor mutational burden (TMB) and Microsatellite Instability (MSI) are now established biomarkers guiding immunotherapy decisions across a growing list of solid tumors. This article outlines how TMB and MSI are defined and assessed in VarSome...

Platform Updates Technology VarSome Clinical Oncology

TMB & MSI Biomarkers

By Jason Armstrong on August 12, 2025

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Lausanne, Switzerland & Murcia, Spain, 30 July 2025 — Saphetor, the creators of the industry-leading VarSome suite of NGS bioinformatics tools, announces a new partnership with LongSeq, a Spanish biotechnology company specialized in advanced...

Press Releases VarSome Clinical News

Saphetor and LongSeq Partner to Expand Access to Advanced Long-Read Sequencing Diagnostics in Spain

By Carl Smith on July 30, 2025

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VarSome Clinical now lets you build report templates that match your laboratory's requirements.

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Custom Report Templates in VarSome Clinical

By Jason Armstrong on July 24, 2025

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Mapping cyber threats in sequencing, analysis, and reporting.

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Does Genomics Have A Security Problem?

By Jason Armstrong on June 5, 2025

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This collaboration will provide selected EU clinical laboratories with a digital solution for meeting IVDR documentation requirements for in-house NGS workflows. Lausanne, Vienna, September 2024 — Saphetor, creator of VarSome and the CE-IVD NGS...

Press Releases VarSome Clinical News

Saphetor and Platomics announce agreement to support labs with IVDR compliance

By Carl Smith on September 9, 2024

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Lausanne, Switzerland 24th July 2024 - Saphetor SA, the creators of the global human genetics community VarSome, today announced European CE mark approval of the VarSome Clinical platform for the automated variant discovery, annotation, and...

Press Releases VarSome Clinical News

Saphetor SA receives IVDR Certification for clinical diagnosis support NGS data analysis platform, VarSome Clinical, ensuring enhanced safety and performance standards

By Carl Smith on July 24, 2024

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The Kingdom of Saudi Arabia has positioned genomic healthcare prominently in the Vision 2030 initiative, with a key focus on personalized healthcare. Saudi Arabia is actively sequencing its population’s genomes and tailoring treatments based on...

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Expanded biobanks, education, and genomics research investments - Saudi Arabia transforming healthcare

By Xanthippi Papakonstanti on November 20, 2023

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Saphetor caught up with Constantia Aristidou from The Cyprus Institute of Neurology & Genetics (CING), that highlighted the breadth and scope of VarSome Clinical in their recently published paper; Exploring the Genetic Causality of Discordant...

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CING studies ABT with the help of VarSome Clinical

By Xanthippi Papakonstanti on August 8, 2023

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