Abstract

BackgroundAs of today, cancer is still one of the most prevalent and high-mortality diseases, summing more than 9 million deaths in 2018. This has motivated researchers to study the application of machine learning-based solutions for cancer detection to accelerate its diagnosis and help its prevention. Among several approaches, one is to automatically classify tumor samples through their gene expression analysis.MethodsIn this work, we aim to distinguish five different types of cancer through RNA-Seq datasets: thyroid, skin, stomach, breast, and lung. To do so, we have adopted a previously described methodology, with which we compare the performance of 3 different autoencoders (AEs) used as a deep neural network weight initialization technique. Our experiments consist in assessing two different approaches when training the classification model — fixing the weights after pre-training the AEs, or allowing fine-tuning of the entire network — and two different strategies for embedding the AEs into the classification network, namely by only importing the encoding layers, or by inserting the complete AE. We then study how varying the number of layers in the first strategy, the AEs latent vector dimension, and the imputation technique in the data preprocessing step impacts the network’s overall classification performance. Finally, with the goal of assessing how well does this pipeline generalize, we apply the same methodology to two additional datasets that include features extracted from images of malaria thin blood smears, and breast masses cell nuclei. We also discard the possibility of overfitting by using held-out test sets in the images datasets.ResultsThe methodology attained good overall results for both RNA-Seq and image extracted data. We outperformed the established baseline for all the considered datasets, achieving an average F1 score of 99.03, 89.95, and 98.84 and an MCC of 0.99, 0.84, and 0.98, for the RNA-Seq (when detecting thyroid cancer), the Malaria, and the Wisconsin Breast Cancer data, respectively.ConclusionsWe observed that the approach of fine-tuning the weights of the top layers imported from the AE reached higher results, for all the presented experiences, and all the considered datasets. We outperformed all the previous reported results when comparing to the established baselines.

Highlights

  • As of today, cancer is still one of the most prevalent and high-mortality diseases, summing more than 9 million deaths in 2018

  • We observed that the approach of fine-tuning the weights of the top layers imported from the AE reached higher results, for all the presented experiences, and all the considered datasets

  • We outperform the results of Ferreira et al [21] and the baseline results presented in Tables 2 and 3; our best performance was achieved by combining the pre-trained AE encoding layers import to the upper layers (Strategy 1) of the deep classification network and allowing subsequent fine-tuning (Approach B), with an F1 score of 99.03 and an Matthews Correlation Coefficient (MCC) of 0.99, when distinguishing thyroid from the other cancer types

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Summary

Introduction

Cancer is still one of the most prevalent and high-mortality diseases, summing more than 9 million deaths in 2018. This has motivated researchers to study the application of machine learning-based solutions for cancer detection to accelerate its diagnosis and help its prevention. Its prevalence makes it more crucial to correctly and accurately classify such diseases. For tackling this need, many research groups have been trying to help on accelerating cancer diagnosis, by experimenting and studying the application of machine learning algorithms to this problem [4]

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