VarSome, the rising human genomic knowledge base

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Eugène Schön

09.09.2016
DNA

VarSome, the human genomic variant knowledge base and aggregator that first appeared last spring has seen its numbers of active users rise at a fast rate. Saphetor, the precision medecine company developing it, will officially launch the platform at the American Society Human Genetics (ASHG) Annual Meeting in October.

Since the first beta version last spring, VarSome, the genomic variant knowledge base has been gaining popularity and interest among its users. With a library of over 280 million genomic variants, the website has already more than 1500 active users per month in the community of clinicians and researchers in genetics, a number growing at a very fast rate.

The idea came to Andreas Massouras, the founder and CEO of Saphetor, as he noticed the frustration generated by the time it takes to look up variants in a number of public databases. So he decided to act. The result is a comprehensive resource that will save users both time and effort when looking up variant information. Today VarSome is already a large continuously updated data library with 18 billion items of variant and gene annotations made easily accessible.

The team led by Andreas Massouras has launched at the end of August an updated beta version of VarSome and prepares actively its official launch at the American Society Human Genetics (ASHG) Annual Meeting to be held in Vancouver in October.

Based at EPFL Innovation Park, Saphetor is a precision medicine company whose goal is to improve outcomes for patients by offering clinicians data-driven solutions for making better diagnoses and selecting optimal therapies. To do this, Saphetor is pioneering the automation of the currently laborious and disparate processes required for genome-scale analyses and variant annotation of data from NGS – Next Generation Sequencing.

Picture: Flavio Takemoto, Freeimages.com

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