A transfer-learning approach to feature extraction from cancer transcriptomes with deep autoencoders

Publicado en Lecture Notes in Computer Science.The diagnosis and prognosis of cancer are among the more challenging tasks that oncology medicine deals with. With the main aim of fitting the more appropriate treatments, current personalized medicine focuses on using data from heterogeneous sources to estimate the evolu- tion of a given disease for the particular case of a certain patient. In recent years, next-generation sequencing data have boosted cancer prediction by supplying gene-expression information that has allowed diverse machine learning algorithms to supply valuable solutions to the problem of cancer subtype classification, which has surely contributed to better estimation of patient’s response to diverse treatments. However, the efficacy of these models is seriously affected by the existing imbalance between the high dimensionality of the gene expression feature sets and the number of sam- ples available for a particular cancer type. To counteract what is known as the curse of dimensionality, feature selection and extraction methods have been traditionally applied to reduce the number of input variables present in gene expression datasets. Although these techniques work by scaling down the input feature space, the prediction performance of tradi- tional machine learning pipelines using these feature reduction strategies remains moderate. In this work, we propose the use of the Pan-Cancer dataset to pre-train deep autoencoder architectures on a subset com- posed of thousands of gene expression samples of very diverse tumor types. The resulting architectures are subsequently fine-tuned on a col- lection of specific breast cancer samples. This transfer-learning approach aims at combining supervised and unsupervised deep learning models with traditional machine learning classification algorithms to tackle the problem of breast tumor intrinsic-subtype classification.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

Comparative Analysis of Feature Selection and Machine Learning Models for Breast Cancer Risk Prediction

The comparative analysis of feature selection and machine learning models for breast cancer risk prediction aims to develop accurate and efficient models for diagnosing breast cancer. In this analysis, we explore different feature selection techniques and machine learning models to identify the most effective feature combination for breast cancer risk prediction. Our study provides valuable insights into the importance of feature selection and model selection in developing accurate breast cancer risk prediction models. Using the three features provide high accuracy to detect breast cancer. Overall, this study highlights the importance of combining feature selection techniques with machine learning algorithms to develop accurate and efficient models for breast cancer risk prediction.The findings of this study are a very simple method to diagnose to improve breast cancer, ultimately leading to better outcomes for patients

Doubly Optimized Calibrated Support Vector Machine (DOC-SVM): an algorithm for joint optimization of discrimination and calibration.

Historically, probabilistic models for decision support have focused on discrimination, e.g., minimizing the ranking error of predicted outcomes. Unfortunately, these models ignore another important aspect, calibration, which indicates the magnitude of correctness of model predictions. Using discrimination and calibration simultaneously can be helpful for many clinical decisions. We investigated tradeoffs between these goals, and developed a unified maximum-margin method to handle them jointly. Our approach called, Doubly Optimized Calibrated Support Vector Machine (DOC-SVM), concurrently optimizes two loss functions: the ridge regression loss and the hinge loss. Experiments using three breast cancer gene-expression datasets (i.e., GSE2034, GSE2990, and Chanrion's datasets) showed that our model generated more calibrated outputs when compared to other state-of-the-art models like Support Vector Machine (p=0.03, p=0.13, and p<0.001) and Logistic Regression (p=0.006, p=0.008, and p<0.001). DOC-SVM also demonstrated better discrimination (i.e., higher AUCs) when compared to Support Vector Machine (p=0.38, p=0.29, and p=0.047) and Logistic Regression (p=0.38, p=0.04, and p<0.0001). DOC-SVM produced a model that was better calibrated without sacrificing discrimination, and hence may be helpful in clinical decision making

AutoDiscern: Rating the Quality of Online Health Information with Hierarchical Encoder Attention-based Neural Networks

Patients increasingly turn to search engines and online content before, or in place of, talking with a health professional. Low quality health information, which is common on the internet, presents risks to the patient in the form of misinformation and a possibly poorer relationship with their physician. To address this, the DISCERN criteria (developed at University of Oxford) are used to evaluate the quality of online health information. However, patients are unlikely to take the time to apply these criteria to the health websites they visit. We built an automated implementation of the DISCERN instrument (Brief version) using machine learning models. We compared the performance of a traditional model (Random Forest) with that of a hierarchical encoder attention-based neural network (HEA) model using two language embeddings, BERT and BioBERT. The HEA BERT and BioBERT models achieved average F1-macro scores across all criteria of 0.75 and 0.74, respectively, outperforming the Random Forest model (average F1-macro = 0.69). Overall, the neural network based models achieved 81% and 86% average accuracy at 100% and 80% coverage, respectively, compared to 94% manual rating accuracy. The attention mechanism implemented in the HEA architectures not only provided 'model explainability' by identifying reasonable supporting sentences for the documents fulfilling the Brief DISCERN criteria, but also boosted F1 performance by 0.05 compared to the same architecture without an attention mechanism. Our research suggests that it is feasible to automate online health information quality assessment, which is an important step towards empowering patients to become informed partners in the healthcare process

The Cure: Making a game of gene selection for breast cancer survival prediction

Motivation: Molecular signatures for predicting breast cancer prognosis could greatly improve care through personalization of treatment. Computational analyses of genome-wide expression datasets have identified such signatures, but these signatures leave much to be desired in terms of accuracy, reproducibility and biological interpretability. Methods that take advantage of structured prior knowledge (e.g. protein interaction networks) show promise in helping to define better signatures but most knowledge remains unstructured. Crowdsourcing via scientific discovery games is an emerging methodology that has the potential to tap into human intelligence at scales and in modes previously unheard of. Here, we developed and evaluated a game called The Cure on the task of gene selection for breast cancer survival prediction. Our central hypothesis was that knowledge linking expression patterns of specific genes to breast cancer outcomes could be captured from game players. We envisioned capturing knowledge both from the players prior experience and from their ability to interpret text related to candidate genes presented to them in the context of the game. Results: Between its launch in Sept. 2012 and Sept. 2013, The Cure attracted more than 1,000 registered players who collectively played nearly 10,000 games. Gene sets assembled through aggregation of the collected data clearly demonstrated the accumulation of relevant expert knowledge. In terms of predictive accuracy, these gene sets provided comparable performance to gene sets generated using other methods including those used in commercial tests. The Cure is available at http://genegames.org/cure

Machine Learning for Integrating Data in Biology and Medicine: Principles, Practice, and Opportunities

New technologies have enabled the investigation of biology and human health at an unprecedented scale and in multiple dimensions. These dimensions include a myriad of properties describing genome, epigenome, transcriptome, microbiome, phenotype, and lifestyle. No single data type, however, can capture the complexity of all the factors relevant to understanding a phenomenon such as a disease. Integrative methods that combine data from multiple technologies have thus emerged as critical statistical and computational approaches. The key challenge in developing such approaches is the identification of effective models to provide a comprehensive and relevant systems view. An ideal method can answer a biological or medical question, identifying important features and predicting outcomes, by harnessing heterogeneous data across several dimensions of biological variation. In this Review, we describe the principles of data integration and discuss current methods and available implementations. We provide examples of successful data integration in biology and medicine. Finally, we discuss current challenges in biomedical integrative methods and our perspective on the future development of the field