ANN ARBOR, Michigan, USA and LAUSANNE, Switzerland – February 6, 2018 –Saphetor S.A., a precision medicine analysis company and Genomenon, Inc., the leading genomic literature search engine company, have signed an agreement to share genomic variant data between their software platforms.
Genomenon’s Mastermind Genomic Search Engine is the world’s first search engine that connects patient’s genomic data with the evidence from the scientific literature. The Mastermind search results include a link to VarSome for gene and variant information. Mastermind, through the VarSome link, can provide a breadth of genomic knowledge about the specific gene or variant search including transcript information, and its entries in 30 databases, such as ClinVar, gnomAD, Uniprot, ICGC, CIViC and dbNSFP.
“The VarSome connection in Mastermind provides a richer view and understanding of variant data that previously wasn’t available in our search engine” said Mike Klein, CEO of Genomenon. “Linking the two products provide this mutual benefit to our users, and it was an easy decision on our part to collaborate on this project.”
Saphetor’s VarSome.com is a leading genomic knowledge base, with 47,000 users worldwide, integrating more than 30 leading research and clinical databases with more than 33 billion data points. VarSome includes a Mastermind link to the scientific literature related to each variant and gene in VarSome. VarSome users, through the Mastermind link, can fully explore the literature landscape associated with the variants and genes they are researching. All VarSome users will get free access to the Mastermind Genomic Search Engine.
“Having an index into the complete corpus of scientific literature available to our VarSome users significantly enhances the value for VarSome users” said Andreas Massouras, CEO of Saphetor. “We’re excited about the value we’re able to bring to both sets of users.”
The data links between Mastermind and VarSome were completed in early January 2018 and are available on both platforms.
Genomenon is a leading genomic intelligence company transforming patient care by uncovering the genomic drivers of genetic disease and cancer. By combining the power of AI built on the world’s premier genomic data set with genomic expertise, the company simplifies complex genetic data into actionable insights. Genomenon's integrated software, data, and services solutions empower clients with advanced patient diagnosis and precision medicine development.
Saphetor, founded in 2014, is a Swiss precision-medicine company dedicated to identifying human genetic variants with improved accuracy by leveraging proprietary algorithms and expert domain knowledge. Capitalizing on the emergence of exome sequencing and whole-genome sequencing, Saphetor’s suite of services offers clinicians intuitive, data driven solutions to make faster, more accurate diagnoses and treatment decisions.