Juan M Gorriz

Mohsen Karami, Khadijeh, Jahanian et al.

In recent years, Reinforcement Learning (RL) has emerged as a powerful tool for solving a wide range of problems, including decision-making and genomics. The exponential growth of raw genomic data over the past two decades has exceeded the capacity of manual analysis, leading to a growing interest in automatic data analysis and processing. RL algorithms are capable of learning from experience with minimal human supervision, making them well-suited for genomic data analysis and interpretation. One of the key benefits of using RL is the reduced cost associated with collecting labeled training data, which is required for supervised learning. While there have been numerous studies examining the applications of Machine Learning (ML) in genomics, this survey focuses exclusively on the use of RL in various genomics research fields, including gene regulatory networks (GRNs), genome assembly, and sequence alignment. We present a comprehensive technical overview of existing studies on the application of RL in genomics, highlighting the strengths and limitations of these approaches. We then discuss potential research directions that are worthy of future exploration, including the development of more sophisticated reward functions as RL heavily depends on the accuracy of the reward function, the integration of RL with other machine learning techniques, and the application of RL to new and emerging areas in genomics research. Finally, we present our findings and conclude by summarizing the current state of the field and the future outlook for RL in genomics.

Juan M Gorriz, R. Martin Clemente, F Segovia et al.

As a technique that can compactly represent complex patterns, machine learning has significant potential for predictive inference. K-fold cross-validation (CV) is the most common approach to ascertaining the likelihood that a machine learning outcome is generated by chance, and it frequently outperforms conventional hypothesis testing. This improvement uses measures directly obtained from machine learning classifications, such as accuracy, that do not have a parametric description. To approach a frequentist analysis within machine learning pipelines, a permutation test or simple statistics from data partitions (i.e., folds) can be added to estimate confidence intervals. Unfortunately, neither parametric nor non-parametric tests solve the inherent problems of partitioning small sample-size datasets and learning from heterogeneous data sources. The fact that machine learning strongly depends on the learning parameters and the distribution of data across folds recapitulates familiar difficulties around excess false positives and replication. A novel statistical test based on K-fold CV and the Upper Bound of the actual risk (K-fold CUBV) is proposed, where uncertain predictions of machine learning with CV are bounded by the worst case through the evaluation of concentration inequalities. Probably Approximately Correct-Bayesian upper bounds for linear classifiers in combination with K-fold CV are derived and used to estimate the actual risk. The performance with simulated and neuroimaging datasets suggests that K-fold CUBV is a robust criterion for detecting effects and validating accuracy values obtained from machine learning and classical CV schemes, while avoiding excess false positives.

Juan M Gorriz, J. Ramirez, F. Segovia et al.

Regression analysis is a central topic in statistical modeling, aimed at estimating the relationships between a dependent variable, commonly referred to as the response variable, and one or more independent variables, i.e., explanatory variables. Linear regression is by far the most popular method for performing this task in various fields of research, such as data integration and predictive modeling when combining information from multiple sources. Classical methods for solving linear regression problems, such as Ordinary Least Squares (OLS), Ridge, or Lasso regressions, often form the foundation for more advanced machine learning (ML) techniques, which have been successfully applied, though without a formal definition of statistical significance. At most, permutation or analyses based on empirical measures (e.g., residuals or accuracy) have been conducted, leveraging the greater sensitivity of ML estimations for detection. In this paper, we introduce Statistical Agnostic Regression (SAR) for evaluating the statistical significance of ML-based linear regression models. This is achieved by analyzing concentration inequalities of the actual risk (expected loss) and considering the worst-case scenario. To this end, we define a threshold that ensures there is sufficient evidence, with a probability of at least $1-η$, to conclude the existence of a linear relationship in the population between the explanatory (feature) and the response (label) variables. Simulations demonstrate the ability of the proposed agnostic (non-parametric) test to provide an analysis of variance similar to the classical multivariate $F$-test for the slope parameter, without relying on the underlying assumptions of classical methods. Moreover, the residuals computed from this method represent a trade-off between those obtained from ML approaches and the classical OLS.

Juan E. Arco, Andrés Ortiz, Javier Ramírez et al.

The ongoing crisis of the COVID-19 (Coronavirus disease 2019) pandemic has changed the world. According to the World Health Organization (WHO), 4 million people have died due to this disease, whereas there have been more than 180 million confirmed cases of COVID-19. The collapse of the health system in many countries has demonstrated the need of developing tools to automatize the diagnosis of the disease from medical imaging. Previous studies have used deep learning for this purpose. However, the performance of this alternative highly depends on the size of the dataset employed for training the algorithm. In this work, we propose a classification framework based on sparse coding in order to identify the pneumonia patterns associated with different pathologies. Specifically, each chest X-ray (CXR) image is partitioned into different tiles. The most relevant features extracted from PCA are then used to build the dictionary within the sparse coding procedure. Once images are transformed and reconstructed from the elements of the dictionary, classification is performed from the reconstruction errors of individual patches associated with each image. Performance is evaluated in a real scenario where simultaneously differentiation between four different pathologies: control vs bacterial pneumonia vs viral pneumonia vs COVID-19. The accuracy when identifying the presence of pneumonia is 93.85%, whereas 88.11% is obtained in the 4-class classification context. The excellent results and the pioneering use of sparse coding in this scenario evidence the applicability of this approach as an aid for clinicians in a real-world environment.