Less than 2min to classify every type of variant in your case and suggest the most relevant ones including related diseases
Our variant interpretation platform enables genetic testing labs to give more people with genetic diseases a clear and fast diagnosis.
Over 300 million people around the world live with a rare genetic disease. For most, the journey from first symptom to diagnosis lasts over 5 years, with many receiving incorrect or no diagnosis at all. Without diagnosis, patients remain without access to targeted medical interventions and potentially life-saving treatments.
New sequencing technologies are allowing millions of people to benefit from diagnostic genetic testing. However, the last step in genetic testing – variant interpretation – remains laborious and costly. A lab can spend hours, days or even weeks interpreting data from a single patient. Additionally, because of limited understanding of the consequences of variants throughout our genome, genetic test results are often inconclusive. Only about 30% of patients undergoing next-generation sequencing receive a diagnosis, leaving the majority without a clear answer.
A NEW APPROACH
Our ML model interprets variants in a way that is auditable and reproducible. Moreover, it learns from new data, but also benefits from expert knowledge: in addition to 30+ data sources, we modeled a decade of experience in clinical genetics.
To solve more variants of unknown significance, the data we currently have is not enough. We solve this by generating new data in-house in a scalable manner with massive parallel experiments leveraging new approaches in synthetic biology.
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