Predicting gene essentiality from omics data

Topic:

How Ardigen’s daGama framework helped a drug discovery company identify crucial genetic targets for cancer treatment?

Identifying essential genes in cancer is a cornerstone of targeted drug discovery. Yet, the integration of diverse multi-omics datasets and the complexity of advanced machine learning methods pose significant challenges. In this case study, we explore how a growing drug discovery company partnered with Ardigen to explore the use of AI and multi-omics data integration for breakthrough insights into gene essentiality.

Challenge

The client faced three key hurdles:

  • Lack of in-house Machine Learning expertise: Despite having rich omics datasets from patients and cell lines, the client lacked the ML capabilities to extract actionable insights.
  • Data heterogeneity: Combining in vivo and in vitro multi-omics profiles introduced batch effects and inconsistencies.
  • Need for rapid, reliable outcomes: Time-sensitive research required fast, yet scientifically robust, results.

Approach

To tackle these challenges, Ardigen deployed its proprietary daGama Framework, blending computational biology expertise with cutting-edge machine learning methods. Key elements of the approach included:

  • Variational Autoencoders (VAE): Used for learning compact, informative representations of genetic profiles.
  • Multimodal VAE (MVAE): Integrated various omics data types into a unified, consistent format.
  • Batch effect correction and domain adaptation: Ensured data harmonization across sources, improving cross-domain reliability.

This robust strategy enabled the creation of a harmonized, multi-dimensional view of gene activity across both patient-derived and cell line datasets.

Results

  • >70% improvement in predictive performance with domain adaptation, highlighting the importance of advanced correction techniques.
  • 10+ synthetically lethal gene pairs identified, including novel discoveries and known pairs, validating the method’s accuracy.
  • Successfully identified essential genes across multiple cancer types, delivering a critical foundation for targeted therapy research.

Through collaboration with Ardigen and the application of its daGama Framework, the client transformed a fragmented data challenge into a high-impact research success. This project not only enhanced the state of the art in gene essentiality prediction but also accelerated the client’s drug discovery efforts with scientifically validated insights.

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