Tomas Kucera

Tomas Kucera
Head of Bussiness Development
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Danyel Biotech to distribute VarSome Clinical in Israel

Posted by Tomas Kucera on Jan 16, 2020 11:00:00 AM

Lausanne, Switzerland - January 16, 2020 - 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 Danyel Biotech, a leading distributor providing innovative solutions such as Illumina, ArcherDx etc. Saphetor’s VarSome Clinical, a clinically-certified platform for interpretation of NGS data extends Shiva’s portfolio of tools and services for a wide range of its clients employing NGS technologies for clinical as well as for research purposes.

Shiva Scientific to distribute VarSome Clinical in India

Posted by Tomas Kucera on Jan 13, 2020 5:21:12 PM

Lausanne, Switzerland - January 13, 2020 - 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 Shiva Scientific Company, a leading distributor providing innovative solutions in the field of Genomics and Transplantation. Saphetor’s VarSome Clinical, a clinically-certified platform for interpretation of NGS data extends Shiva’s portfolio of tools and services for a wide range of its clients employing NGS technologies for clinical as well as for research purposes.

Mitomap and Variable Strength for ACMG now available in VarSome

Posted by Tomas Kucera on Dec 11, 2019 4:04:21 PM

We are releasing Mitomap and Variable Strength for ACMG Criteria for the free VarSome.com.

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.

VarSome Clinical version 8 released

Posted by Tomas Kucera on Nov 11, 2019 4:36:00 PM

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

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.