Tomas Kucera

Tomas Kucera
Head of Bussiness Development
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Saphetor SA and 4bases announce partnership to accelerate data interpretation for targeted NGS panels

Posted by Tomas Kucera on Dec 3, 2019 10:00:00 AM

Lausanne, December 3st, 2019. Saphetor SA, a Swiss precision medicine company and the creator of VarSome, a suite of bioinformatics solutions, announced today a partnership with 4bases SA, a Swiss-based company specialized in the development, production, and commercialization of reagent kits and gene assays for clinical NGS.

Increasing the diagnostic yield with VarSome Clinical

Posted by Tomas Kucera on Nov 6, 2019 3:02:23 PM

Although NGS technology is increasingly available in clinical settings, the main challenge remains the interpretation of sequencing data, especially when it comes to larger data sets, such as exomes and genomes. The MedSeq Project examined the effort needed to reanalyze genomes 6–23 months after the initial analysis and how often new findings were revealed [1]. Over the course of the MedSeq study, 14 variants were reclassified and, upon reanalysis, 18 new variants met criteria for reporting. According to Yska et al [2], the percentage of patients who were genetically diagnosed for primary immunodeficiencies using NGS and array-based methodologies was as low as 15%. These findings highlight the need for periodic reinterpretation and reanalysis of sequencing data for both diagnostic indications and secondary findings.

Varelas to distribute VarSome Clinical in Greece

Posted by Tomas Kucera on Oct 3, 2019 4:28:35 PM

Lausanne, Switzerland - October 3, 2019 - Saphetor SA, a Swiss precision-medicine company and leader in diagnostic and bioinformatics solutions for clinical Next Generation Sequencing (NGS), announced today a distribution agreement with Varelas, a distributor for clinical applications in Greece. Saphetor’s VarSome Clinical, a clinically-certified platform for interpretation of NGS data extends Varelas’s portfolio of tools and services for a wide range of its clients employing NGS technologies for clinical as well as for research purposes.

Immuno Diagnostic Oy to distribute VarSome Clinical in Finland

Posted by Tomas Kucera on Sep 18, 2019 7:17:52 AM

Lausanne, Switzerland - September 18, 2019 - Saphetor SA, a Swiss precision-medicine company and leader in diagnostic and bioinformatics solutions for clinical Next Generation Sequencing (NGS), announced today a distribution agreement with Immuno Diagnostic Oy, an authorized distributor in Finland for clinical applications in Finland. Saphetor’s VarSome Clinical, a clinically-certified platform for interpretation of NGS data extends Immuno Diagnostic’s portfolio of tools and services for a wide range of its clients employing NGS technologies for clinical as well as for research purposes.

Single transcript for ACMG, and more!

Posted by Tomas Kucera on Aug 27, 2019 5:07:38 PM

We are proud to present the latest version of VarSome.com with the following new features and improvements.

VarSome’s Implementation of ACMG Guidelines

Posted by Tomas Kucera on Aug 8, 2019 10:00:00 AM

Next-generation Sequencing (NGS) is becoming increasingly more adopted by the clinical community as a primary tool for diagnostics and monitoring of many diseases, uncovering millions of variants previously unknown. However, the sheer quantity of NGS data presents challenges, especially in the interpretation of the clinical significance of genetic variation, and as such may have serious implications for treatment decisions and further medical outcomes. Thus, innovative analytical approaches are critical for scaling up the adoption and diagnostic yield of NGS-based methodology in clinical settings.