Helix Pathogenicity
Unmatched accuracy in mutation-effect prediction
Identify disease-causing mutations to focus your research where it matters
Helix Pathogenicity delivers highly accurate predictions of missense variant pathogenicity, significantly reducing false positives and negatives. Propel your work in biomedical research, genetic diagnostics, personalized treatment strategies or identification of drug targets with Helix’s deep insights into protein function and automatic integration with scientific literature for each variant.
Reliable and transparent AI predictions
Rely on cutting-edge technology for precision
Helix Pathogenicity uses state-of-the-art machine learning algorithms to deliver highly accurate predictions of missense variant pathogenicity. Confidence estimates ensure you can trust the results for critical research decisions.
Combined data for informed decision-making
Augment artificial intelligence with human insight
Helix Pathogenicity harnesses AI together with sequence, structure and literature data. Dive into causal factors and analyses from different models thanks to Helix’s detailed variant insights.
Interactive variant reports
Explore the details of each variant
Access interactive variant reports that provide comprehensive information on missense mutations. Helix reports enhance variant interpretation through rich contextual insights, enabling confident and impactful decisions.
Seamless integration into your workflow
Don’t change your ways — improve them
Take advantage of Helix Pathogenicity’s robust API for quick and easy integration into your existing process. Helix also works with the 3DM platform, leveraging the best protein data available.
Integration with scientific literature
Stay informed with relevant research references
Helix Pathogenicity includes information from relevant scientific papers, offering direct links and context for each variant. Keep on top of the latest research and easily validate your findings.
“Helix Pathogenicity is a highly advanced computational tool designed to predict the effects of missense variants on protein function. Our analysis demonstrates that Helix consistently outperforms most other prediction tools by correlating its predictions with functional data. This indicates that Helix can be a valuable asset in the clinical interpretation of rare missense variants, particularly in cases where clinical data is scarce.”
