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A Multimodal Foundation Model for Discovering Genetic Associations with Brain Imaging Phenotypes

Machado Reyes, D.; Burch, M. C.; PARIDA, L.; Bose, A.

2024-11-04 genetic and genomic medicine
10.1101/2024.11.02.24316653 medRxiv
Show abstract

Due to the intricate etiology of neurological disorders, finding interpretable associations between multi-omics features can be challenging using standard approaches. We propose COMICAL, a contrastive learning approach leveraging multi-omics data to generate associations between genetic markers and brain imaging-derived phenotypes. COMICAL jointly learns omic representations utilizing transformer-based encoders with custom tokenizers. Our modality-agnostic approach uniquely identi-fies many-to-many associations via self-supervised learning schemes and cross-modal attention encoders. COMICAL discovered several significant associations between genetic markers and imaging-derived phenotypes for a variety of neurological disorders in the UK Biobank as well as predicting across diseases and unseen clinical outcomes from the learned representations. Source code of COMICAL along with pre-trained weights, enabling transfer learning is available at https://github.com/IBM/comical.

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