Organizations: 1*School of Computer Science and Technology, Harbin Institute of Technology (Shenzhen), Shenzhen, Guang Dong 518055, China. · School of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China. · 4Departments of Mathematics and Computer Science, Hong Kong Baptist University, Hong Kong SAR, China. · 2Key Laboratory of Biological Bigdata, Ministry of Education, Harbin Institute of Technology, Harbin, Heilongjiang 150001, China.
Accurate prediction of synthetic lethality (SL) is important for guiding the development of cancer drugs and therapies. SL prediction faces significant challenges in the effective fusion of heterogeneous multi-source data. Existing multimodal methods often suffer from "modality laziness" due to disparate convergence speeds, which hinders the exploitation of complementary information. This is also one reason why most existing SL prediction models cannot perform well on both pan-cancer and single-cancer SL pair prediction. In this study, we propose SynLeaF, a dual-stage multimodal fusion framework for SL prediction across pan- and single-cancer contexts. The framework employs a VAE-based cross-encoder with a product of experts mechanism to fuse four omics data types (gene expression, mutation, methylation, and CNV), while simultaneously utilizing a relational graph convolutional network to capture structured gene representations from biomedical knowledge graphs. To mitigate modality laziness, SynLeaF introduces a dual-stage training mechanism employing featurelevel knowledge distillation with adaptive uni-modal teacher and ensemble strategies. In extensive experiments across eight specific cancer types and a pancancer dataset, SynLeaF achieves superior performance in 17 out of 19 scenarios. Ablation studies and gradient analyses further validate the critical contributions of the proposed fusion and distillation mechanisms to model robustness and generalization. To facilitate community use, a web server is available at https://synleaf.bioinformatics-lilab.cn.
Figures & tables
Figure 1: Overview of the SynLeaF Framework . SynLeaF constitutes a dual-stage multimodal integration architecture designed for synthetic lethality prediction, taking cancer-specific omics profiles and biomedical knowledge graphs as inputs. The Omics Encoder uses a cross-encoder architecture based on a Variational Autoencoder (VAE) and performs early fusion on four types of omics data: copy number variation (cnv), gene expression (exp), DNA methylation (myl), and mutation (mut), through a Product of Experts (PoE) mechanism. The Knowledge Graph Encoder utilizes a Relational Graph Convolutional Network (RGCN) to extract structural features associated with genes within the biological network. With these encoders, SynLeaF first independently pre-trains two unimodal models and then constructs two base estimators respectively under two complementary fusion strategies in further training. For both the UMT and UME strategies, the parameters of the pre-trained unimodal encoders are strictly frozen. Specifically, under the UMT strategy, SynLeaF treats the pre-trained unimodal encoders as teachers, guiding the training of a multimodal student model through feature-level knowledge distillation. Under the UME strategy, SynLeaF directly integrates the prediction results ( po and pk ) from the two pre-trained unimodal models. Here, po and pk denote the predicted probabilities from the Omics and Knowledge Graph models, respectively. Finally, SynLeaF adaptively selects the optimal strategy between UMT and UME according to observed validation efficacy.
Cancer
Split
Metric
SLGNN
ELISL
PTGNN
MPASL
SynLeaF
↑ (%)
BRCA
CV1
AUC
0.8847(0.0130)
0.9041(0.0104)
0.9453(0.0093)
0.8187(0.0173)
0.9654(0.0038)
2.13
AUPR
0.8949(0.0169)
0.9196(0.0079)
0.9600(0.0084)
0.8508(0.0118)
0.9743(0.0020)
1.49
CV2
AUC
0.7147(0.1036)
0.7615(0.0470)
0.8153(0.0911)
0.6660(0.0701)
0.8474(0.0502)
3.94
AUPR
0.7358(0.1114)
0.7894(0.0664)
0.8316(0.0973)
0.6888(0.0763)
0.8707(0.0563)
4.70
CESC
CV1
AUC
0.6251(0.0795)
0.7136(0.0797)
0.7765(0.0480)
0.7321(0.0946)
0.8136(0.0505)
4.78
AUPR
0.6543(0.0846)
0.7466(0.0484)
0.7915(0.0621)
0.7299(0.0847)
0.8180(0.0650)
3.35
Table 1: Experiment results on cancer-specific datasets. The standard deviations of the readings are reported in parentheses. The best performing method is highlighted in bold and the second best is underlined . The last column indicates the improvement made by SynLeaF.
Cancer
Split
Metric
SLGNN
PTGNN
MPASL
SynLeaF
↑ (%)
pan
CV1
AUC
0.9550(0.0021)
0.9315(0.0011)
0.9336(0.0037)
0.9652(0.0012)
1.07
AUPR
0.9616(0.0018)
0.9386(0.0024)
0.9425(0.0033)
0.9669(0.0008)
0.55
F1
0.8964(0.0023)
0.8894(0.0014)
0.8692(0.0041)
0.9099(0.0018)
1.51
CV2
AUC
0.7736(0.0305)
0.7684(0.0657)
0.4900(0.0234)
0.8624(0.0236)
11.48
AUPR
0.8050(0.0255)
0.8104(0.0448)
0.6118(0.0232)
0.8754(0.0226)
8.02
F1
0.6006(0.0394)
0.7189(0.0433)
0.3858(0.1325)
0.7955(0.0246)
10.66
Table 2: Comparison of experimental results on the pan-cancer dataset
Figure 2: Radar chart comparing the performance of SynLeaF and unimodal baseline variants. This chart shows the AUC performance comparison of SynLeaF against the two unimodal baseline variants, Only Omics and Only KG, on the pan-cancer and eight cancer-specific datasets, under the two data splitting strategies of CV1 and CV2. The performance curve of SynLeaF forms an “envelope effect” over the unimodal models on almost all datasets, demonstrating the consistent advantage of multimodal fusion.
Figure 3: Performance comparison of SynLeaF baseline variants on two cancer datasets. This figure shows the AUC scores for the unimodal baseline variants (Only Omics, Only KG) and the baseline variants respectively employing two multimodal fusion strategies (UMT, UME) on the CESC and COAD cancer datasets under the CV1 split. The height of the bars corresponds to the mean AUC obtained via 5-fold cross-validation, while the standard deviations are denoted by the error bars. The star indicates the optimal fusion strategy, which is finally adopted in the SynLeaF adaptive selection mechanism on that dataset.
Figure 4: Sensitivity analysis of the λdistill parameter in the UMT module. This figure shows how the performance (AUC, AUPR, F1-Score) of the UMT fusion strategy changes with the knowledge distillation weight λdistill on all single-cancer and pan-cancer datasets. A value of λdistill=0 corresponds to Naïve multimodal training without distillation regularization.
Figure 5: Gradient dynamics analysis on the CESC (CV1, Fold2) dataset. (a) Overall test performance comparison: Test AUC curves for UMT (solid line) and the Naïve no-distillation baseline (dashed line). The red dots mark the checkpoints selected based on the validation set. (b) improvements in unimodal scenarios: change in test AUC for the Omics and KG modalities under the UMT and Naïve no-distillation strategies (denoted as Omics/KG ( λdistill=50 ) and Omics/KG ( λdistill=0 ), respectively). The vertical line marks the UMT checkpoint position. (c) Gradient norm comparison: change in the gradient norms of the two modality encoders over training epochs under different distillation weights λdistill . (d) Gradient norm ratio: trend of the gradient balance between the two modalities. Here, the gradient norm ratio is defined as the L2 norm of the gradients with respect to the Omics encoder’s parameters divided by that of the KG encoder’s parameters.
Gene Pairs
BRCA
CESC
COAD
KIRC
LAML
LUAD
OV
SKCM
pan
RAD51–BRCA1
0.9928
0.3817
0.6562
0.6038
0.5830
0.4169
0.3849
0.5850
0.9748
RAD51–BRCA2
0.9213
0.4462
0.4572
0.6160
0.5406
0.5259
0.3624
0.6082
0.9596
ADAR-BRCA1
0.9307
0.4876
0.5443
0.3883
0.5413
0.4984
0.2611
0.5221
0.8667
ADAR-BRCA2
0.7750
0.4697
0.3759
0.3465
0.5174
0.4815
0.1832
0.5595
0.7112
Table 3: Prediction scores retrieved from the SynLeaF web server for two case studies.
Cancer Type
# Total Genes
# Pos.
# Neg.
BRCA
17965
1349
990
CESC
17977
144
4738
COAD
17961
1560
70982
KIRC
17963
60
2514
LAML
17944
1147
18912
LUAD
17954
582
5460
Table 4: Statistics of synthetic lethality pair counts after data processing 2 2 footnotetext: # Pos. denotes the count of positive samples; # Neg. denotes the count of negative samples.
Figure 6: Statistics of sample counts for original omics data across cancer types. This figure displays the number of raw available samples before preprocessing for four omics data types (Copy Number Variation (CNV), Gene Expression, DNA Methylation, and Mutation) across the eight specific cancer types and the pan-cancer dataset used in this study. Noting that the pan-cancer (pan) dataset does not include DNA methylation data due to data source limitations.
We introduce ProtoPathway, an interpretable-by-design multimodal framework for cancer survival prediction that unifies whole slide imaging and transcriptomics through encoders producing biologically grounded representations on both sides of the fusion. On the histopathology side, K learnable morphological prototypes, trained end-to-end with the survival objective, serve as the slide representation itself: patches flow into prototype tokens via soft assignment, compressing variable-length patch sets into fixed task-adaptive tokens. On the genomic side, a bipartite graph neural network encodes gene expression within the Reactome pathway hierarchy, producing pathway embeddings that reflect both constituent genes and their broader biological context through bidirectional message passing over a shared gene--pathway graph. Cross-modal attention then operates over a compact prototype × pathway matrix in which prototypes query pathways, modeling the biological direction in which molecular programs give rise to tissue morphology. Because both axes carry stable task-learned identity, the attention matrix is itself an interpretability output, yielding native inference-time attribution across the full biological hierarchy, from genes through pathways and prototypes to spatial tissue maps. We evaluate on five TCGA cancer cohorts, demonstrating competitive or superior survival prediction with substantially improved biological interpretability and reduced computational cost, with interpretability claims validated through fold-stratified rank-based population-level analysis. Our source code, model weights, and Reactome pathways, together with a unified codebase reimplementing all multimodal survival baselines under identical preprocessing and evaluation, are available at: https://github.com/AmayaGS/ProtoPathway.
Amaya Gallagher-Syed, Costantino Pitzalis, Myles J. Lewis +2
We propose a novel multimodal deep learning framework for patient-level survival prediction, which integrates whole-slide histology features, RNA-seq expression profiles, and clinical variables. Our architecture combines an ABMIL module~\cite{ilse2018attention} for slide-level representation with feedforward encoders for RNA and clinical data. These embeddings are then integrated through low-rank bilinear cross-modal fusion~\cite{liu2018efficient} to model conditional interactions across modalities while controlling parameter growth. The model outputs continuous risk scores that are subsequently mapped to survival times using a nonparametric calibration procedure based on the Kaplan--Meier estimator~\cite{kaplan1958nonparametric}. By decomposing multimodal reasoning into independent pairwise interactions, the proposed fusion design promotes structural interpretability and parameter efficiency compared with full tensor and hierarchical fusion strategies. Experiments on the CHIMERA challenge dataset demonstrate improved predictive performance over concatenation-based baselines and competitive generalization on hidden evaluation cohorts. These results indicate that the proposed framework is a promising approach for multimodal survival prediction in HR-NMIBC. The implementation is publicly available at https://github.com/hassancpu/ChimeraChallenge2025_Task_3.
Hassan Keshvarikhojasteh, Josien P. W. Pluim, Mitko Veta
Department of Biomedical Engineering, Eindhoven University of Technology, Eindhoven, The Netherlands
Multimodal medical data captures complementary aspects of disease. It provides a comprehensive basis for diagnosis and the identification of biological associations linked to progression or treatment response. Established contrastive learning approaches exploit shared information across modalities, but fall short in exploiting complementary, modality-specific signals relevant for a task. Here, we propose a synergistic multimodal variational autoencoder (VAE) framework that separates task-relevant unimodal and multimodal information from instance-specific variation task-irrelevant, allowing complementary signals across modalities to be leveraged for prediction. The method yields benefits even if modalities are missing at test time. We evaluate the method on a treatment response prediction task using medical imaging and RNA data. Empirical comparison with alignment-based and multimodal VAE state-of-the-art approaches demonstrates improved multimodal prediction performance, and consistent benefits for prediction from a single modality after multimodal training. The full code can be found here: https://github.com/cirmuw/SYNPRED.
Ivana Janíčková, Yen Y. Tan, Thomas H. Helbich +6
Computational Imaging Research Lab, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Austria · Comprehensive Center for Artificial Intelligence in Medicine, Medical University of Vienna, Austria · Christian Doppler Laboratory for Machine Learning Driven Precision Imaging, Department of Biomedical Imaging and Image-guided Therapy, Medical University of Vienna, Austria +3