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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Wong M, Liew B, Hum M, Lee NY, Lee ASG. Benchmarking of variant calling software for whole-exome sequencing using gold standard datasets. Sci Rep. 2025;15(1):13697. doi:10.1038/s41598-025-97047-7

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Benchmarking Variant Calling Tools - Wong et al., 2025

By Jason Armstrong on May 13, 2025

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Genomics and the Future of Maternal and Newborn Health: Closing Gaps, Saving Lives

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World Health Day 2025 - Genomics in Maternal & Newborn Health

By Jason Armstrong on April 7, 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...

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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...

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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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Gene fusion detection: Liquid biopsies and classification of co-mutations

By Xanthippi Papakonstanti on April 5, 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 at ASHG 2023

By Carl Smith on October 30, 2023

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This new partnership will provide integrated end-to-end solutions from sample to report for whole genome nanopore sequencing in future clinical applications.

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Oxford Nanopore Technologies and Saphetor announce a new partnership to deliver tertiary analysis for comprehensive interpretation of nanopore sequencing

By Carl Smith on October 25, 2023

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Lausanne, Switzerland, October 17,2023 – Saphetor SA today announces that it is partnering with world-leading healthcare intelligence and clinical research organization ICON to develop an innovative approach to support the planning and execution of...

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Saphetor partners with ICON to develop innovative data-centric approach to precision medicine clinical trial strategies to help support unique patients

By Carl Smith on October 17, 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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When we ask people what they value most about VarSome, the most common response is “the classifiers”. In building our germline and somatic variant classifiers, we automated a very time-consuming and labor-intensive process. We apply the relevant...

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Reclassifying VUS

By Carl Smith on July 20, 2023

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