EDLM: Ensemble Deep Learning Model to Detect Mutation for the Early Detection of Cholangiocarcinoma

Genes (Basel). 2023 May 18;14(5):1104. doi: 10.3390/genes14051104.

Abstract

The most common cause of mortality and disability globally right now is cholangiocarcinoma, one of the worst forms of cancer that may affect people. When cholangiocarcinoma develops, the DNA of the bile duct cells is altered. Cholangiocarcinoma claims the lives of about 7000 individuals annually. Women pass away less often than men. Asians have the greatest fatality rate. Following Whites (20%) and Asians (22%), African Americans (45%) saw the greatest increase in cholangiocarcinoma mortality between 2021 and 2022. For instance, 60-70% of cholangiocarcinoma patients have local infiltration or distant metastases, which makes them unable to receive a curative surgical procedure. Across the board, the median survival time is less than a year. Many researchers work hard to detect cholangiocarcinoma, but this is after the appearance of symptoms, which is late detection. If cholangiocarcinoma progression is detected at an earlier stage, then it will help doctors and patients in treatment. Therefore, an ensemble deep learning model (EDLM), which consists of three deep learning algorithms-long short-term model (LSTM), gated recurrent units (GRUs), and bi-directional LSTM (BLSTM)-is developed for the early identification of cholangiocarcinoma. Several tests are presented, such as a 10-fold cross-validation test (10-FCVT), an independent set test (IST), and a self-consistency test (SCT). Several statistical techniques are used to evaluate the proposed model, such as accuracy (Acc), sensitivity (Sn), specificity (Sp), and Matthew's correlation coefficient (MCC). There are 672 mutations in 45 distinct cholangiocarcinoma genes among the 516 human samples included in the proposed study. The IST has the highest Acc at 98%, outperforming all other validation approaches.

Keywords: Artificial Intelligence; Cancer detection; Deep Learning; Ensemble learning; Machine Learning; Next generation sequences (NGS); bi-directional LSTM (BLSTM); cholangiocarcinoma (CCA) detection; gated recurrent units (GRUs); long short-term memory (LSTM); mutation detection.

MeSH terms

  • Bile Duct Neoplasms* / diagnosis
  • Bile Duct Neoplasms* / genetics
  • Bile Ducts, Intrahepatic / pathology
  • Cholangiocarcinoma* / diagnosis
  • Cholangiocarcinoma* / genetics
  • Cholangiocarcinoma* / pathology
  • Deep Learning*
  • Early Detection of Cancer
  • Female
  • Humans
  • Male

Grants and funding

This research received no external funding.