About

We are the creators of VarSome, a suite of bioinformatics tools for processing and annotation of NGS data. We are a multi-disciplinary team driven by passion and curiosity, bringing together strong skills in life sciences and software engineering.

Solution & Product

The VarSome Suite is a set of advanced and sophisticated tools for large-scale NGS data analysis. While VarSome.com is a freely available community-driven project, VarSome Premium is a subscription service with premium data resources and features, and VarSome Clinical a CE-IVD-certified and HIPAA-compliant fully-fledged platform for researchers and clinicians alike. VarSome.com is a community-driven project aimed at sharing global expertise on human variants. It features a robust aggregated knowledge base consisting of over 120 cross-referenced and contributions from its community of more than 300 000 users worldwide. VarSome.com Premium is a subscription service allowing you to access additional 3rd party annotation and features without any delays. Free analyses with VarSome Clinical are also included up to the value of your subscription each month. VarSome Clinical is a CE IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels. VarSome Clinical helps molecular geneticists and clinicians increase the diagnostic yield and support treatment decisions for genetic conditions. VarSome's high-performance variant annotation Application Programming Interface (API) makes it possible to annotate variants using data from . You can start your project immediately and without incurring the significant overheads of integrating and maintaining all these feeds yourself.

Innovation & Scalability

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. 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, 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. To that end, we have created VarSome.com, the freely available genomics knowledge base and community, which cross-references over 50 public data resources, and then, in turn, allows you to obtain comprehensive annotation data for any variant, including the interpretation of pathogenicity according to ACMG guidelines. Moreover, you can also benefit from the contributions of VarSome’s 200,000-strong global community, which constitutes a unique layer of data that cannot be found elsewhere.

Traction & achievements

Successfully launched a number of products (online platforms): VarSome Clinical (2015), VarSome.com (2016), VarSome API (2018), VarSome Insights (2020). Exceeded 100 institutional customers (hospitals, labs, pharma companies) Established business development team in the US, to become our biggest market in 2021 Exceeded 900 medical publications citing us Created the biggest professional community in the world with more than 300’000 users.

Team & Why Us

We are a multi-disciplinary team driven by passion and curiosity, bringing together strong skills in life sciences and software engineering. The current team consists of 40 professionals allocated to the following countries: Switzerland, Greece, Spain, UK, US, Croatia and Bosnia and Herzegovina. Our Greek Branch has recently established, and we are proud of offering employment to 20 employees. Among them, the 17 are working on technology and bioinformatics fields using state-of-the-art-technology and developing best-in-class products on a global scale. Within the next few months, we will expand our Greek team and bring some more tech experts on board to support our production. Our C-team: Andreas Massouras, CEO has a 20+ year experience in building large data platforms and has a background in software engineering, finance and genetics. Andy Cosgrove, CCO has a 20+ year commercial experience in pharmaceutical and genomics companies. Richard Meyer, CTO, has a 20+ year experience in large-scale data integration, processing and management, as well as leading large teams of engineers Emmanuel de Martel, COO/CFO, has a 20+ year experience in operations and finance for technology and medical device companies.

Funding Needs

We are currently in the process of inviting potential investors to participate in our Series B funding round.