Tomas Kucera

Tomas Kucera
Head of Bussiness Development
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Molecular Vision Laboratory implements VarSome Clinical in its diagnostic workflow

Posted by Tomas Kucera on May 21, 2019 4:28:06 PM

Lausanne, May 21th, 2019. Saphetor SA, a Swiss precision medicine company and the creator of VarSome, a suite of advanced bioinformatics solutions, announced today a partnership with Molecular Vision Laboratory (MVL), a CAP and CLIA-certified medical diagnostic laboratory based in Oregon, USA, providing comprehensive genetic NGS-based testing for inherited retinal dystrophies.

VarSome’s Big Data

Posted by Tomas Kucera on Apr 29, 2019 1:04:44 PM

As a result of little standardization, large amount of new scientific findings generated almost every day and an explosion of sequencing data for various purposes, the landscape of human genomics is quite fragmented, siloed, and inconsistent. We all know how frustrating the process of assessing a comprehensive information for genomic variant can be. The way forward is data integration, harmonization and cross-referencing.

VarSome as Human Genomics Community

Posted by Tomas Kucera on Feb 14, 2019 10:56:04 AM
 
As a researcher or medical professional, you may encounter a rare variant which you have never seen before. Collecting information about such a variant may take you a lot of time without any guarantee that you will find what you need. However, if there was another clinician or researcher, anywhere in the world, who has already dealt with the same variant in the past and if there was an easy way to get in touch, well, everything would be much easier. And that's what VarSome as a  Human Genomics Community is all about!

Saphetor Portal became VarSome Clinical!

Posted by Tomas Kucera on Feb 4, 2019 1:21:22 PM

The Saphetor Portal has been updated to version 7 as of February 2nd 2019 under the new name VarSome Clinical. There are many changes since version 6, and this release brings our clinical platform up to date with the features, databases and classification visible in the free VarSome.com. Our clinical platform has been on the market since 2015 and is already being used by dozens of institutional clients, such as diagnostic laboratories, hospitals, and universities from countries all over the world.

PMKB now available on VarSome!

Posted by Tomas Kucera on Jan 10, 2019 2:22:41 PM

New York and Lausanne, Switzerland - January 10, 2019 - Saphetor SA, the creator of VarSome, announced today a partnership with the Englander Institute for Precision Medicine at Weill Cornell Medicine, the creator of Precision Medicine Knowledgebase (PMKB), a curated resource for the clinical interpretation of cancer variants [1]. PMKB is now a fundamental component of VarSome’s portfolio of over 30 integrated and cross-referenced public data resources as well as VarSome’s implementation of the American College of Medical Genetics guidelines.

Introducing VarSome Pro!

Posted by Tomas Kucera on Jan 8, 2019 12:38:09 PM

We are delighted to release VarSome Pro, the advanced variant analysis platform, dramatically extending the popular VarSome platform as previously announced.