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Identifying the mutations that drive cancer growth is key in clinical decision making and precision oncology. As driver mutations confer selective advantage and thus have an increased likelihood of occurrence, frequency-based statistical…
The discovery of causal relationships from high-dimensional data is a major open problem in bioinformatics. Machine learning and feature attribution models have shown great promise in this context but lack causal interpretation. Here, we…
Background Precise prediction of cancer types is vital for cancer diagnosis and therapy. Important cancer marker genes can be inferred through predictive model. Several studies have attempted to build machine learning models for this task…
Molecular representation is a critical element in our understanding of the physical world and the foundation for modern molecular machine learning. Previous molecular machine learning models have employed strings, fingerprints, global…
Traditional saliency map methods, popularized in computer vision, highlight individual points (pixels) of the input that contribute the most to the model's output. However, in time series, they offer limited insights, as semantically…
Motivation: ``Molecular signatures'' or ``gene-expression signatures'' are used to predict patients' characteristics using data from coexpressed genes. Signatures can enhance understanding about biological mechanisms and have diagnostic…
Motivated by the goals of dataset pruning and defect identification, a growing body of methods have been developed to score individual examples within a dataset. These methods, which we call "example difficulty scores", are typically used…
Manifold learning techniques play a pivotal role in machine learning by revealing lower-dimensional embeddings within high-dimensional data, thus enhancing both the efficiency and interpretability of data analysis by transforming the data…
The rapidly emerging field of deep learning-based computational pathology has demonstrated promise in developing objective prognostic models from histology whole slide images. However, most prognostic models are either based on histology or…
Modern bio-technologies have produced a vast amount of high-throughput data with the number of predictors far greater than the sample size. In order to identify more novel biomarkers and understand biological mechanisms, it is vital to…
Mathematical models play an increasingly important role in the interpretation of biological experiments. Studies often present a model that generates the observations, connecting hypothesized process to an observed pattern. Such generative…
The adoption of machine learning in high-stakes applications such as healthcare and law has lagged in part because predictions are not accompanied by explanations comprehensible to the domain user, who often holds the ultimate…
Improving the interpretability of geospatial artificial intelligence (GeoAI) models has become critically important to open the "black box" of complex AI models, such as deep learning. This paper compares popular saliency map generation…
Machine learning in drug discovery has been focused on virtual screening of molecular libraries using discriminative models. Generative models are an entirely different approach that learn to represent and optimize molecules in a continuous…
Motivation: The consistent amount of different types of omics data requires novel methods of analysis and data integration. In this work we describe Regression2Net, a computational approach to analyse gene expression and methylation…
Cancers are characterized by remarkable heterogeneity and diverse prognosis. Accurate cancer classification is essential for patient stratification and clinical decision-making. Although digital pathology has been advancing cancer diagnosis…
With the tremendous increase in the amount of biological literature, developing automated methods for extracting big data from papers, building models and explaining big mechanisms becomes a necessity. We describe here our approach to…
Deep Learning has shown outstanding results in computer vision tasks; healthcare is no exception. However, there is no straightforward way to expose the decision-making process of DL models. Good accuracy is not enough for skin cancer…
Image classification is widely used to build predictive models for breast cancer diagnosis. Most existing approaches overwhelmingly rely on deep convolutional networks to build such diagnosis pipelines. These model architectures, although…
Representation learning, and interpreting learned representations, are key areas of focus in machine learning and neuroscience. Both fields generally use representations as a means to understand or improve a system's computations. In this…