Tomas Kucera
Head of Strategic Alliances & Channel Partners
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.
As we continuously work on the enrichment our services, this recent version features the following changes with regard to the pipelines and resources used in our platform:
Pipelines
GATK has been replaced by Sentieon for all clients. All external tools were kept at the same version as the previous release. Learn more about VarSome Clinical's pipelines.
New Data Resources
- Genomics England PanelApp
- MONDO: Monarch Disease Ontology
- Weill Cornell Precision Medicine Knowledge Base (PMKB)
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