VarFish - Genome InterpretationInterpret whole-genome data more efficiently
VarFish is the open analysis platform for genetic data.
Our mission
Interpretation has become a bottleneck in diagnosing genetic disorders
Over 250 million people are affected by a genetic disorder world-wide
Even though individually rare, over 6000 genetic disorders exist. In sum, a highly significant portion of the global population is affected. Diagnosis and treatment is difficult and often very costly.
60% of cases remain unsolved
Even with the latest sequencing technologies, the share of cases that are unsolved remains high.
Interpreting whole genome data is still highly manual and time intensive
Just working up a single whole-genome sequenced case can take a clinical geneticist over 12 hours. Interpreting invididual variants, creating board presentations, report creation and downstream data management are often still highly manual and many tasks need to be performed manually.
Collaboration often falls short
Solving the most difficult cases often requires high-quality data to be shared between individual institutions on their patients. Since this process is not well-integrated into current software, the quality and extent of data shared remains a major challenge for many clinics and laboratories involed in rare disease diagnositcs.
We are already in successful use
VarFish is already in use at multiple universities and our tools have been extensively used in clinical research for rare disease.
Our team
Our team consists of both experienced software engineers and physicians with expertise in whole genome sequencing and rare disease diagnostics.
We want to shape the future of rare disease diagnostics
Our goal is to solve the long tail of unsolved patients with a rare genetic disorder. This requires rapid implementation of state-of-the-art technologies, including novel sequencing technologies, AI-based methods and the latest guidelines and recommendations. In addition, we will require much stronger international collaboration in order to increase our capabilities to match patients with undiagnosed disorders.
Join us in our journey to transform genome diagnostics.
We are looking for experienced product managers, web developers and software engineers, if you love open-source and working on software that really makes a difference, you will feel right at home with us.
Reach out to us
Interested or having questions? Feel free to contact us.
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