medRxivGenetic & Genomic MedicinePreprint
A Multimodal Foundation Model for Discovering Genetic Associations with Brain Imaging Phenotypes
Diego Machado ReyesiD, Myson BurchiD, Laxmi ParidaiD, Aritra BoseiD
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.
- organism: human
- assay: bulk RNA-seq
- assay: imaging
- research focus: gene regulatory network inference
- research focus: GWAS / association mapping
- approach: contrastive learning
- Citations
- 3
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