Uncovering the Genetic Basis of Glioblastoma Heterogeneity through Multimodal Analysis of Whole Slide Images and RNA Sequencing Data

Glioblastoma is a highly aggressive form of brain cancer characterized by rapid progression and poor prognosis. Despite advances in treatment, the underlying genetic mechanisms driving this aggressiveness remain poorly understood. In this study, we employed multimodal deep learning approaches to investigate glioblastoma heterogeneity using joint image/RNA-seq analysis. Our results reveal novel genes associated with glioblastoma. By leveraging a combination of whole-slide images and RNA-seq, as well as introducing novel methods to encode RNA-seq data, we identified specific genetic profiles that may explain different patterns of glioblastoma progression. These findings provide new insights into the genetic mechanisms underlying glioblastoma heterogeneity and highlight potential targets for therapeutic intervention.

DRIM: Learning Disentangled Representations from Incomplete Multimodal Healthcare Data

Real-life medical data is often multimodal and incomplete, fueling the growing need for advanced deep learning models capable of integrating them efficiently. The use of diverse modalities, including histopathology slides, MRI, and genetic data, offers unprecedented opportunities to improve prognosis prediction and to unveil new treatment pathways. Contrastive learning, widely used for deriving representations from paired data in multimodal tasks, assumes that different views contain the same task-relevant information and leverages only shared information. This assumption becomes restrictive when handling medical data since each modality also harbors specific knowledge relevant to downstream tasks. We introduce DRIM, a new multimodal method for capturing these shared and unique representations, despite data sparsity. More specifically, given a set of modalities, we aim to encode a representation for each one that can be divided into two components: one encapsulating patient-related information common across modalities and the other, encapsulating modality-specific details. This is achieved by increasing the shared information among different patient modalities while minimizing the overlap between shared and unique components within each modality. Our method outperforms state-of-the-art algorithms on glioma patients survival prediction tasks, while being robust to missing modalities. To promote reproducibility, the code is made publicly available at https://github.com/Lucas-rbnt/DRIM