Swiss Biotech to Investigate rare Endocrine Disorders with NGS

22/04/2016 - 2 minutes

Saphetor is developing genome-scale analysis of next generation sequencing (NGS) results – and will now ‘play’ with real data of Endocrine patients at the Lausanne University Hospital.

saphetor_ngs_bioinformatic_lausanne_hospitalBased in Lausanne’s EPFL Innovation Park (Switzerland), Saphetor was founded only in 2014 and completed a seed financing round this February, raising around €1M (1.2M CHF).

This startup develops proprietary algorithms to accurately identify genetic variants and integrate data from the continually growing gene databases. It has already amassed a collection of over 13 billion annotations on gene variations.

Along with an intuitive interface for medical staff, Saphetor can also help make sense of large ‘panels’ of genes, and even whole genomes. Whole genome studies are increasingly being used as the cost of next generation sequencing (NGS) plummeted in recent years.

Saphetor is targeting difficult to diagnose conditions, such as rare diseases or cognitive impairment – areas where data-driven medicine could have a big impact.

Now, the company is entering a collaboration with Lausanne University Hospital (CHUV).

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