A Framework for Prediction of Oncogenomic Progression Aiding Personalized Treatment of Gastric Cancer

Diagnostics (Basel). 2023 Jul 6;13(13):2291. doi: 10.3390/diagnostics13132291.

Abstract

Mutations in genes can alter their DNA patterns, and by recognizing these mutations, many carcinomas can be diagnosed in the progression stages. The human body contains many hidden and enigmatic features that humankind has not yet fully understood. A total of 7539 neoplasm cases were reported from 1 January 2021 to 31 December 2021. Of these, 3156 were seen in males (41.9%) and 4383 (58.1%) in female patients. Several machine learning and deep learning frameworks are already implemented to detect mutations, but these techniques lack generalized datasets and need to be optimized for better results. Deep learning-based neural networks provide the computational power to calculate the complex structures of gastric carcinoma-driven gene mutations. This study proposes deep learning approaches such as long and short-term memory, gated recurrent units and bi-LSTM to help in identifying the progression of gastric carcinoma in an optimized manner. This study includes 61 carcinogenic driver genes whose mutations can cause gastric cancer. The mutation information was downloaded from intOGen.org and normal gene sequences were downloaded from asia.ensembl.org, as explained in the data collection section. The proposed deep learning models are validated using the self-consistency test (SCT), 10-fold cross-validation test (FCVT), and independent set test (IST); the IST prediction metrics of accuracy, sensitivity, specificity, MCC and AUC of LSTM, Bi-LSTM, and GRU are 97.18%, 98.35%, 96.01%, 0.94, 0.98; 99.46%, 98.93%, 100%, 0.989, 1.00; 99.46%, 98.93%, 100%, 0.989 and 1.00, respectively.

Keywords: bi-LSTM; bioinformatics; deep learning; gastric carcinoma; gated recurrent units (GRU); long and short-term memory (LSTM); next generation sequencing (NGS).