Join the Rare Disease Artificial Intelligence validation program


Join the Rare Disease Artificial Intelligence validation program  

We strive to enable faster, simpler and more accessible genomic data analysis to help more individuals get the life-changing answers they need to improve their lives.  

 To support this effort, Congenica has developed novel, explainable and fully evidenced artificial intelligence (A.I.) to assist clinical scientists and geneticists in rapidly determining causal pathogenic variants for rare disease cases 


We are now inviting laboratories that are currently analyzing next-generation sequenced data to participate in the early-access Congenica A.I. validation program. 


Introducing Congenica A.I. 

Congenica A.I. provides rapid predicted pathogenicity classification of an individual’s genomic variants (SNVs) given their phenotypes. It explains answers in detail, offering helpful transparency of the analysis performed and supporting evidence for users.  


SNVs previously classified as variants of unknown significance (VUS) can be given to the A.I. to suggest an explained reclassification as benign, likely benign, likely pathogenic or pathogenic.  


Congenica A.I. has been created to infer likely pathogenicity from thousands of unique real-world expert-generated rare disease interpretations available to Congenica and a range of industry-leading data sources. It therefore breaks down information silos and closes data gaps, while protecting patient privacy, to go beyond any other tools in existence today. 


How this will help you 

We understand that the large volume and complexity of cases are challenges for our many labs. Our A.I. intends to reduce the time and effort it takes to interpret cases by automatically pre-interpreting all SNVs in a case, fully evidenced and ready for your review, benefiting you and patients.  


By participating in the Congenica A.I. validation program you will receive, free of charge: 

  • Fully evidenced validation of your previously solved cases  
  • Predicted interpretation of your currently unsolved cases  


Invitation to the early-access validation program 

Congenica is inviting laboratories that are currently analyzing next-generation sequenced data to participate in the early-access Congenica A.I. validation program.  


This is a time-limited opportunity for labs to freely partner with Congenica to test the predictive capabilities of the A.I., validate results against known interpretations and receive predictions for your currently unsolved cases. This will allow Congenica to validate the expected performance on external data sets and receive valuable feedback in the development of this game-changing technology. 


Program partners will be assisted by our Machine Learning team and invited to:

  • Share with Congenica solved cases to validate performance: (specifically variants, phenotypes, pathogenicity and contribution to phenotype classifications assigned) 
  • Share with Congenica unsolved cases, and receive the predictions generated. 

Participation in this trial program allows partners one-off access to our A.I. variant predictions for research purposes. In return, Congenica asks to publish the stories of successful validation exercises, for example the number of additional cases resolved, or the time saved in analyzing hard to solve cases. 


Full details of the program are available to download here 


How to get involved  

To get started, please complete the form below and confirm your interest in supporting the program.