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Purpose Post-injury health service utilization (HSU) contributes to injury outcomes, but limited studies investigated their relationship. This study aims to group injured patients in transport accidents based on minimal historical information of their HSU so that the groups are meaningfully associated with the outcome of interest. Methods The data include 20,692 injured patients who had compensation claims over 3 years. We propose a hybrid approach, combining unsupervised and supervised machine learning methods. Based on the first week post-injury data, we identify a proper clustering of patients best associated with total cost to recovery, as well as the discovery of HSU patterns. This allows developing models to accurately predict the outcome of interest using the discovered patterns. Furthermore, we propose to use decision tree classifiers to accurately classify future patients into the discovered clusters using their first week post-injury information. Results Our hybrid approach has identified eight patient groups. The compactness of the resulted clusters, assessed by Average Silhouette Width metric, is 0.71 indicating well-defined clusters. The resulted patient groups are highly predictive of injury outcomes. They improve the cost predictability more than twice in comparison with predictors such as gender, age and injury type. These groups also have substantial association with patients' recovery. The transparency and interpretability of decision trees allow integrating the resulting classification rules conveniently in operational processes. Conclusions This study provides a framework to discover knowledge and useful insights for health service providers and policy makers to control injury outcomes, and consequently to reduce the severity of transport accidents.

Cancer arises from successive rounds of mutations, resulting in tumor cells with different somatic mutations known as clones. Drug responsiveness and therapeutics of cancer depend on the accurate detection of the clones in a tumor sample. Recent research has considered inferring clonal composition of a tumor sample using computational models based on the short read data of the sample generated using the next-generation sequencing (NGS) technology. Short reads (segmented DNA parts of different tumor cells) are noisy; therefore, inferring the clones and their mutations from the data is a difficult and complex problem. Existing methods to infer clones from noisy NGS data do not consider the presence of long-range mutational influences. Therefore, we develop a new model, called extended multiple sample tumor heterogeneity prediction by factorial Hidden Markov model (emHetFHMM), based on factorial hidden Markov models to infer clones and their proportions by capturing the long-range mutational influences. In our model, each hidden chain represents the genomic signature of a clone, and a mixture of chains results in the observed data. We make use of Gibbs sampling and exponentiated gradient algorithms to infer the hidden variables and mixing proportions. We compare our model with strong models from the previous work (PyClone, PhyloSub, and HetFHMM) based on both synthetic data and real cancer data from acute myeloid leukemia. Empirical results confirm that emHetFHMM infers clonal composition of a tumor sample more accurately than previous studies.

Identifying those patient groups, who have unwanted outcomes, in the early stages is crucial to providing the most appropriate level of care. In this study, we intend to find distinctive patterns in health service use (HSU) of transport accident injured patients within the first week post-injury. Aiming those patterns that are associated with the outcome of interest. To recognize these patterns, we propose a multi-objective optimization model that minimizes the k-medians cost function and regression error simultaneously. Thus, we use a semi-supervised clustering approach to identify patient groups based on HSU patterns and their association with total cost. To solve the optimization problem, we introduce an evolutionary algorithm using stochastic gradient descent and Pareto optimal solutions. As a result, we find the best optimal clusters by minimizing both objective functions. The results show that the proposed semi-supervised approach identifies distinct groups of HSUs and contributes to predict total cost. Also, the experiments prove the performance of the multi-objective approach in comparison with single- objective approaches.

It has been shown that minimum free-energy structure for RNAs and RNA-RNA interaction is often incorrect due to inaccuracies in the energy parameters and inherent limitations of the energy model. In contrast, ensemble-based quantities such as melting temperature and equilibrium concentrations can be more reliably predicted. Even structure prediction by sampling from the ensemble and clustering those structures by Sfold has proven to be more reliable than minimum free energy structure prediction. The main obstacle for ensemble-based approaches is the computational complexity of the partition function and base-pairing probabilities. For instance, the space complexity of the partition function for RNA-RNA interaction is O(n4) and the time complexity is O(n6), which is prohibitively large. Our goal in this article is to present a fast algorithm, based on sparse folding, to calculate an upper bound on the partition function. Our work is based on the recent algorithm of Hazan and Jaakkola (2012). The space complexity of our algorithm is the same as that of sparse folding algorithms, and the time complexity of our algorithm is O(MFE(n)ℓ) for single RNA and O(MFE(m, n)ℓ) for RNA-RNA interaction in practice, in which MFE is the running time of sparse folding and ℓ≤n (ℓ≤n+m) is a sequence-dependent parameter.

One challenge in applying bioinformatic tools to clinical or biological data is high number of features that might be provided to the learning algorithm without any prior knowledge on which ones should be used. In such applications, the number of features can drastically exceed the number of training instances which is often limited by the number of available samples for the study. The Lasso is one of many regularization methods that have been developed to prevent overfitting and improve prediction performance in high-dimensional settings. In this paper, we propose a novel algorithm for feature selection based on the Lasso and our hypothesis is that defining a scoring scheme that measures the "quality" of each feature can provide a more robust feature selection method. Our approach is to generate several samples from the training data by bootstrapping, determine the best relevance-ordering of the features for each sample, and finally combine these relevance-orderings to select highly relevant features. In addition to the theoretical analysis of our feature scoring scheme, we provided empirical evaluations on six real datasets from different fields to confirm the superiority of our method in exploratory data analysis and prediction performance. For example, we applied FeaLect, our feature scoring algorithm, to a lymphoma dataset, and according to a human expert, our method led to selecting more meaningful features than those commonly used in the clinics. This case study built a basis for discovering interesting new criteria for lymphoma diagnosis. Furthermore, to facilitate the use of our algorithm in other applications, the source code that implements our algorithm was released as FeaLect, a documented R package in CRAN.

Motivation: The study of cancer genomes now routinely involves using next-generation sequencing technology (NGS) to profile tumours for single nucleotide variant (SNV) somatic mutations. However, surprisingly few published bioinformatics methods exist for the specific purpose of identifying somatic mutations from NGS data and existing tools are often inaccurate, yielding intolerably high false prediction rates. As such, the computational problem of accurately inferring somatic mutations from paired tumour/normal NGS data remains an unsolved challenge., Results: We present the comparison of four standard supervised machine learning algorithms for the purpose of somatic SNV prediction in tumour/normal NGS experiments. To evaluate these approaches (random forest, Bayesian additive regression tree, support vector machine and logistic regression), we constructed 106 features representing 3369 candidate somatic SNVs from 48 breast cancer genomes, originally predicted with naive methods and subsequently revalidated to establish ground truth labels. We trained the classifiers on this data (consisting of 1015 true somatic mutations and 2354 non-somatic mutation positions) and conducted a rigorous evaluation of these methods using a cross-validation framework and hold-out test NGS data from both exome capture and whole genome shotgun platforms. All learning algorithms employing predictive discriminative approaches with feature selection improved the predictive accuracy over standard approaches by statistically significant margins. In addition, using unsupervised clustering of the ground truth 'false positive' predictions, we noted several distinct classes and present evidence suggesting non-overlapping sources of technical artefacts illuminating important directions for future study., Availability: Software called MutationSeq and datasets are available from http://compbio.bccrc.ca.

Nearest neighbor search is a core process in many data mining algorithms. Finding reliable closest matches of a test instance is still a challenging task as the effectiveness of many general-purpose distance measures such as $$\ell _p$$ -norm decreases as the number of dimensions increases. Their performances vary significantly in different data distributions. This is mainly because they compute the distance between two instances solely based on their geometric positions in the feature space, and data distribution has no influence on the distance measure. This paper presents a simple data-dependent general-purpose dissimilarity measure called ' $$m_p$$ -dissimilarity'. Rather than relying on geometric distance, it measures the dissimilarity between two instances as a probability mass in a region that encloses the two instances in every dimension. It deems two instances in a sparse region to be more similar than two instances of equal inter-point geometric distance in a dense region. Our empirical results in k-NN classification and content-based multimedia information retrieval tasks show that the proposed $$m_p$$ -dissimilarity measure produces better task-specific performance than existing widely used general-purpose distance measures such as $$\ell _p$$ -norm and cosine distance across a wide range of moderate- to high-dimensional data sets with continuous only, discrete only, and mixed attributes. [ABSTRACT FROM AUTHOR]

Statistical machine translation systems are usually trained on large amounts of bilingual text (used to learn a translation model), and also large amounts of monolingual text in the target language (used to train a language model). In this article we explore the use of semi-supervised model adaptation methods for the effective use of monolingual data from the source language in order to improve translation quality. We propose several algorithms with this aim, and present the strengths and weaknesses of each one. We present detailed experimental evaluations on the French—English EuroParl data set and on data from the NIST Chinese—English large-data track. We show a significant improvement in translation quality on both tasks. [ABSTRACT FROM AUTHOR]