Leading the Transition into Genomics

Genome-scale NGS data annotation and interpretation

Saphetor is a personalised 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.

Our solutions

NGS data annotation and interpretation

Saphetor’s technology platform automatically annotates and classifies variants. We have aggregated and regularly update more than 18 billion annotations from a wide range of databases. This allows end users to efficiently navigate their NGS data, rapidly identify the most relevant variant(s) and explore what is known about each variant in order to facilitate the most accurate diagnosis and optimal therapeutic choices. In addition, at the request of certain clients, Saphetor’s in-house genetic analysts can write reports organising and highlighting the most important findings from the automated analyses.

A human genomic variant knowledge base

VarSome is a free knowledge base and aggregator for human genomic variants. We were frustrated with the amount of time it takes to look up variants in a number of public databases, and we decided to act.
The result is a comprehensive resource that will save you both time and effort when looking up variant information.

A large continuously updated data library:
So far, we have accumulated about 18 billion items of variant and gene annotation and have made it easily accessible, so you will get what you are looking for in less than a second.

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An API for batch annotations

We provide a tailor-made solution but we can also work in collaboration with bioinformatics teams since we provide also an API that gives you access to all the aggregated information we store for a variant with a single call.

You get variant and gene information from the latest version of a number of databases in a consistent manner. This way you can focus on your research and not spend time downloading, organising, aggregating and updating external databases.


Partners / Collaborations

We have established partnerships with well-known academic institutions and international diagnostic laboratories.
We are actively seeking new clients, partners and employees who would like to leverage our technology and/or help us push the envelope on product development.info@saphetor.com


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