Uncovering the Genetic Basis of Glioblastoma Heterogeneity through Multimodal Analysis of Whole Slide Images and RNA Sequencing Data
- URL: http://arxiv.org/abs/2410.18710v3
- Date: Mon, 19 May 2025 13:22:26 GMT
- Title: Uncovering the Genetic Basis of Glioblastoma Heterogeneity through Multimodal Analysis of Whole Slide Images and RNA Sequencing Data
- Authors: Ahmad Berjaoui, Louis Roussel, Eduardo Hugo Sanchez, Elizabeth Cohen-Jonathan Moyal,
- Abstract summary: Glioblastoma is a highly aggressive form of brain cancer characterized by rapid progression and poor prognosis.<n>Our results reveal novel genes associated with glioblastoma.
- Score: 0.7499722271664147
- License: http://arxiv.org/licenses/nonexclusive-distrib/1.0/
- Abstract: 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. Code and data downloading instructions are available at: https://github.com/ma3oun/gbheterogeneity.
Related papers
- GRAPE: Heterogeneous Graph Representation Learning for Genetic Perturbation with Coding and Non-Coding Biotype [51.58774936662233]
Building gene regulatory networks (GRN) is essential to understand and predict the effects of genetic perturbations.<n>In this work, we leverage pre-trained large language model and DNA sequence model to extract features from gene descriptions and DNA sequence data.<n>We introduce gene biotype information for the first time in genetic perturbation, simulating the distinct roles of genes with different biotypes in regulating cellular processes.
arXiv Detail & Related papers (2025-05-06T03:35:24Z) - A Novel Approach to Linking Histology Images with DNA Methylation [8.947503179743167]
Abnormal methylation patterns can disrupt gene expression and have been linked to cancer development.
We propose an end-to-end graph neural network based weakly supervised learning framework to predict the methylation state of gene groups exhibiting coherent patterns across samples.
We conduct gene set enrichment analyses on the gene groups and show that majority of the gene groups are significantly enriched in important hallmarks and pathways.
arXiv Detail & Related papers (2025-04-07T18:19:01Z) - Machine Learning-Based Genomic Linguistic Analysis (Gene Sequence Feature Learning): A Case Study on Predicting Heavy Metal Response Genes in Rice [22.754584720614947]
We developed a hybrid model capable of extracting and learning meaningful features from gene sequences.
RNA-seq and qRT-PCR experiments conducted on rice leaves exposed to Hg0 revealed differential expression of genes associated with heavy metal responses.
Co-expression network analysis identified 103 related genes, and a literature review indicated that these genes are highly likely to be involved in heavy metal-related biological processes.
arXiv Detail & Related papers (2025-03-20T13:41:31Z) - scMamba: A Pre-Trained Model for Single-Nucleus RNA Sequencing Analysis in Neurodegenerative Disorders [43.24785083027205]
scMamba is a pre-trained model designed to improve the quality and utility of snRNA-seq analysis.<n>Inspired by the recent Mamba model, scMamba introduces a novel architecture that incorporates a linear adapter layer, gene embeddings, and bidirectional Mamba blocks.<n>We demonstrate that scMamba outperforms benchmark methods in various downstream tasks, including cell type annotation, doublet detection, imputation, and the identification of differentially expressed genes.
arXiv Detail & Related papers (2025-02-12T11:48:22Z) - Survey and Improvement Strategies for Gene Prioritization with Large Language Models [61.24568051916653]
Large language models (LLMs) have performed well in medical exams, but their effectiveness in diagnosing rare genetic diseases has not been assessed.
We used multi-agent and Human Phenotype Ontology (HPO) classification to categorized patients based on phenotypes and solvability levels.
At baseline, GPT-4 outperformed other LLMs, achieving near 30% accuracy in ranking causal genes correctly.
arXiv Detail & Related papers (2025-01-30T23:03:03Z) - Explainable AI model reveals disease-related mechanisms in single-cell RNA-seq data [2.975735171548829]
Neurodegenerative diseases (NDDs) are complex and lack effective treatment due to their poorly understood mechanism.
In this work, we implement a method for identifying disease-related genes and the mechanistic explanation of disease progression based on NN model combined with SHAP.
Our results show that DGE and SHAP approaches offer both common and differential sets of altered genes and pathways, reinforcing the usefulness of XAI methods for a broader perspective of disease.
arXiv Detail & Related papers (2025-01-07T16:35:29Z) - Precision Cancer Classification and Biomarker Identification from mRNA Gene Expression via Dimensionality Reduction and Explainable AI [0.9423257767158634]
This research presents a comprehensive pipeline designed to accurately identify 33 distinct cancer types and their corresponding gene sets.
It incorporates a combination of normalization and feature selection techniques to reduce dataset dimensionality effectively.
We leverage Explainable AI to elucidate the biological significance of the identified cancer-specific genes.
arXiv Detail & Related papers (2024-10-08T18:56:31Z) - Gene-Level Representation Learning via Interventional Style Transfer in Optical Pooled Screening [3.7038542578642715]
We employ a style-transfer approach to learn gene-level feature representations from images of genetically perturbed cells obtained via Optical pooled screening (OPS)
Our method outperforms widely used engineered features in clustering gene representations according to gene function, demonstrating its utility for uncovering latent biological relationships.
arXiv Detail & Related papers (2024-06-11T22:56:50Z) - Predicting Genetic Mutation from Whole Slide Images via Biomedical-Linguistic Knowledge Enhanced Multi-label Classification [119.13058298388101]
We develop a Biological-knowledge enhanced PathGenomic multi-label Transformer to improve genetic mutation prediction performances.
BPGT first establishes a novel gene encoder that constructs gene priors by two carefully designed modules.
BPGT then designs a label decoder that finally performs genetic mutation prediction by two tailored modules.
arXiv Detail & Related papers (2024-06-05T06:42:27Z) - Quantifying intra-tumoral genetic heterogeneity of glioblastoma toward
precision medicine using MRI and a data-inclusive machine learning algorithm [3.2507684591996036]
Glioblastoma (GBM) is one of the most aggressive and lethal human cancers.
Biopsy is invasive, which motivates the development of non-invasive, MRI-based machine learning (ML) models.
We proposed a novel Weakly Supervised Ordinal Support Vector Machine (WSO-SVM) to predict regional genetic alteration status within each GBM tumor using MRI.
arXiv Detail & Related papers (2023-12-30T03:28:51Z) - Gene-MOE: A sparsely gated prognosis and classification framework
exploiting pan-cancer genomic information [13.57379781623848]
We introduce a novel sparsely gated RNA-seq analysis framework called Gene-MOE.
Gene-MOE exploits the potential of the MOE layers and the proposed mixture of attention expert layers to enhance the analysis accuracy.
It addresses overfitting challenges by integrating pan-cancer information from 33 distinct cancer types through pre-training.
arXiv Detail & Related papers (2023-11-29T07:09:25Z) - Single-Cell Deep Clustering Method Assisted by Exogenous Gene
Information: A Novel Approach to Identifying Cell Types [50.55583697209676]
We develop an attention-enhanced graph autoencoder, which is designed to efficiently capture the topological features between cells.
During the clustering process, we integrated both sets of information and reconstructed the features of both cells and genes to generate a discriminative representation.
This research offers enhanced insights into the characteristics and distribution of cells, thereby laying the groundwork for early diagnosis and treatment of diseases.
arXiv Detail & Related papers (2023-11-28T09:14:55Z) - Genetic InfoMax: Exploring Mutual Information Maximization in
High-Dimensional Imaging Genetics Studies [50.11449968854487]
Genome-wide association studies (GWAS) are used to identify relationships between genetic variations and specific traits.
Representation learning for imaging genetics is largely under-explored due to the unique challenges posed by GWAS.
We introduce a trans-modal learning framework Genetic InfoMax (GIM) to address the specific challenges of GWAS.
arXiv Detail & Related papers (2023-09-26T03:59:21Z) - Artificial-intelligence-based molecular classification of diffuse
gliomas using rapid, label-free optical imaging [59.79875531898648]
DeepGlioma is an artificial-intelligence-based diagnostic screening system.
DeepGlioma can predict the molecular alterations used by the World Health Organization to define the adult-type diffuse glioma taxonomy.
arXiv Detail & Related papers (2023-03-23T18:50:18Z) - Machine Learning Methods for Cancer Classification Using Gene Expression
Data: A Review [77.34726150561087]
Cancer is the second major cause of death after cardiovascular diseases.
Gene expression can play a fundamental role in the early detection of cancer.
This study reviews recent progress in gene expression analysis for cancer classification using machine learning methods.
arXiv Detail & Related papers (2023-01-28T15:03:03Z) - Unsupervised ensemble-based phenotyping helps enhance the
discoverability of genes related to heart morphology [57.25098075813054]
We propose a new framework for gene discovery entitled Un Phenotype Ensembles.
It builds a redundant yet highly expressive representation by pooling a set of phenotypes learned in an unsupervised manner.
These phenotypes are then analyzed via (GWAS), retaining only highly confident and stable associations.
arXiv Detail & Related papers (2023-01-07T18:36:44Z) - Transcriptome-wide prediction of prostate cancer gene expression from
histopathology images using co-expression based convolutional neural networks [0.8874479658912061]
We propose a new, computationally efficient approach for disease specific modelling of relationships between morphology and gene expression.
We conducted the first transcriptome-wide analysis in prostate cancer, using CNNs to predict bulk RNA-sequencing estimates.
arXiv Detail & Related papers (2021-04-19T13:50:25Z)
This list is automatically generated from the titles and abstracts of the papers in this site.
This site does not guarantee the quality of this site (including all information) and is not responsible for any consequences.