Analysis of RNA-Seq data using self-supervised learning for vital status prediction of colorectal cancer patients

BACKGROUND: RNA sequencing (RNA-Seq) is a technique that utilises the capabilities of next-generation sequencing to study a cellular transcriptome i.e., to determine the amount of RNA at a given time for a given biological sample. The advancement of RNA-Seq technology has resulted in a large volume of gene expression data for analysis. RESULTS: Our computational model (built on top of TabNet) is first pretrained on an unlabelled dataset of multiple types of adenomas and adenocarcinomas and later fine-tuned on the labelled dataset, showing promising results in the context of the estimation of the vital status of colorectal cancer patients. We achieve a final cross-validated (ROC-AUC) Score of 0.88 by using multiple modalities of data. CONCLUSION: The results of this study demonstrate that self-supervised learning methods pretrained on a vast corpus of unlabelled data outperform traditional supervised learning methods such as XGBoost, Neural Networks, and Decision Trees that have been prevalent in the tabular domain. The results of this study are further boosted by the inclusion of multiple modalities of data pertaining to the patients in question. We find that genes such as RBM3, GSPT1, MAD2L1, and others important to the computation model’s prediction task obtained through model interpretability corroborate with pathological evidence in current literature. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12859-023-05347-4.