MOTIVATION: Identifying meaningful patterns in complex biological data necessitates correlation coefficients capable of capturing diverse relationship types beyond simple linearity. Furthermore, efficient computational tools are crucial for handling the ever-increasing scale of biological datasets. RESULTS: We introduce CCC-GPU, a high-performance, GPU-accelerated implementation of the Clustermatch Correlation Coefficient (CCC). CCC-GPU computes correlation coefficients for mixed data types, effectively detects nonlinear relationships, and offers significant speed improvements over its predecessor. AVAILABILITY AND IMPLEMENTATION: The source code of CCC-GPU is openly available on GitHub (https://github.com/pivlab/ccc-gpu) and archived on Zenodo (https://doi.org/10.5281/zenodo.18310318), distributed under the BSD-2-Clause Plus Patent License.

OBJECTIVE: Investigate the use of advanced natural language processing models to streamline the time-consuming process of writing and revising scholarly manuscripts. MATERIALS AND METHODS: For this purpose, we integrate large language models into the Manubot publishing ecosystem to suggest revisions for scholarly texts. Our AI-based revision workflow employs a prompt generator that incorporates manuscript metadata into templates, generating section-specific instructions for the language model. The model then generates revised versions of each paragraph for human authors to review. We evaluated this methodology through 5 case studies of existing manuscripts, including the revision of this manuscript. RESULTS: Our results indicate that these models, despite some limitations, can grasp complex academic concepts and enhance text quality. All changes to the manuscript are tracked using a version control system, ensuring transparency in distinguishing between human- and machine-generated text. CONCLUSIONS: Given the significant time researchers invest in crafting prose, incorporating large language models into the scholarly writing process can significantly improve the type of knowledge work performed by academics. Our approach also enables scholars to concentrate on critical aspects of their work, such as the novelty of their ideas, while automating tedious tasks like adhering to specific writing styles. Although the use of AI-assisted tools in scientific authoring is controversial, our approach, which focuses on revising human-written text and provides change-tracking transparency, can mitigate concerns regarding AI's role in scientific writing.

MOTIVATION: In precision medicine, next-generation sequencing and novel preclinical reports have led to an increasingly large amount of results, published in the scientific literature. However, identifying novel treatments or predicting a drug response in, for example, cancer patients, from the huge amount of papers available remains a laborious and challenging work. This task can be considered a text mining problem that requires reading a lot of academic documents for identifying a small set of papers describing specific relations between key terms. Due to the infeasibility of the manual curation of these relations, computational methods that can automatically identify them from the available literature are urgently needed. RESULTS: We present DL4papers, a new method based on deep learning that is capable of analyzing and interpreting papers in order to automatically extract relevant relations between specific keywords. DL4papers receives as input a query with the desired keywords, and it returns a ranked list of papers that contain meaningful associations between the keywords. The comparison against related methods showed that our proposal outperformed them in a cancer corpus. The reliability of the DL4papers output list was also measured, revealing that 100% of the first two documents retrieved for a particular search have relevant relations, in average. This shows that our model can guarantee that in the top-2 papers of the ranked list, the relation can be effectively found. Furthermore, the model is capable of highlighting, within each document, the specific fragments that have the associations of the input keywords. This can be very useful in order to pay attention only to the highlighted text, instead of reading the full paper. We believe that our proposal could be used as an accurate tool for rapidly identifying relationships between genes and their mutations, drug responses and treatments in the context of a certain disease. This new approach can certainly be a very useful and valuable resource for the advancement of the precision medicine field. AVAILABILITY AND IMPLEMENTATION: A web-demo is available at: http://sinc.unl.edu.ar/web-demo/dl4papers/. Full source code and data are available at: https://sourceforge.net/projects/sourcesinc/files/dl4papers/. CONTACT: [email protected]. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

MOTIVATION: The importance of microRNAs (miRNAs) is widely recognized in the community nowadays because these short segments of RNA can play several roles in almost all biological processes. The computational prediction of novel miRNAs involves training a classifier for identifying sequences having the highest chance of being precursors of miRNAs (pre-miRNAs). The big issue with this task is that well-known pre-miRNAs are usually few in comparison with the hundreds of thousands of candidate sequences in a genome, which results in high class imbalance. This imbalance has a strong influence on most standard classifiers, and if not properly addressed in the model and the experiments, not only performance reported can be completely unrealistic but also the classifier will not be able to work properly for pre-miRNA prediction. Besides, another important issue is that for most of the machine learning (ML) approaches already used (supervised methods), it is necessary to have both positive and negative examples. The selection of positive examples is straightforward (well-known pre-miRNAs). However, it is difficult to build a representative set of negative examples because they should be sequences with hairpin structure that do not contain a pre-miRNA. RESULTS: This review provides a comprehensive study and comparative assessment of methods from these two ML approaches for dealing with the prediction of novel pre-miRNAs: supervised and unsupervised training. We present and analyze the ML proposals that have appeared during the past 10 years in literature. They have been compared in several prediction tasks involving two model genomes and increasing imbalance levels. This work provides a review of existing ML approaches for pre-miRNA prediction and fair comparisons of the classifiers with same features and data sets, instead of just a revision of published software tools. The results and the discussion can help the community to select the most adequate bioinformatics approach according to the prediction task at hand. The comparative results obtained suggest that from low to mid-imbalance levels between classes, supervised methods can be the best. However, at very high imbalance levels, closer to real case scenarios, models including unsupervised and deep learning can provide better performance.

MOTIVATION: Heterogeneous and voluminous data sources are common in modern datasets, particularly in systems biology studies. For instance, in multi-holistic approaches in the fruit biology field, data sources can include a mix of measurements such as morpho-agronomic traits, different kinds of molecules (nucleic acids and metabolites) and consumer preferences. These sources not only have different types of data (quantitative and qualitative), but also large amounts of variables with possibly non-linear relationships among them. An integrative analysis is usually hard to conduct, since it requires several manual standardization steps, with a direct and critical impact on the results obtained. These are important issues in clustering applications, which highlight the need of new methods for uncovering complex relationships in such diverse repositories. RESULTS: We designed a new method named Clustermatch to easily and efficiently perform data-mining tasks on large and highly heterogeneous datasets. Our approach can derive a similarity measure between any quantitative or qualitative variables by looking on how they influence on the clustering of the biological materials under study. Comparisons with other methods in both simulated and real datasets show that Clustermatch is better suited for finding meaningful relationships in complex datasets. AVAILABILITY AND IMPLEMENTATION: Files can be downloaded from https://sourceforge.net/projects/sourcesinc/files/clustermatch/ and https://bitbucket.org/sinc-lab/clustermatch/. In addition, a web-demo is available at http://sinc.unl.edu.ar/web-demo/clustermatch/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

SUMMARY: Large biobanks, such as UK Biobank with half a million participants, are changing the scale and availability of genotypic and phenotypic data for researchers to ask fundamental questions about the biology of health and disease. The breadth of the UK Biobank data is enabling discoveries at an unprecedented pace. However, this size and complexity pose new challenges to investigators who need to keep the accruing data up to date, comply with potential consent changes, and efficiently and reproducibly extract subsets of the data to answer specific scientific questions. Here we propose a tool called ukbREST designed for the UK Biobank study (easily extensible to other biobanks), which allows authorized users to efficiently retrieve phenotypic and genetic data. It exposes a REST API that makes data highly accessible inside a private and secure network, allowing the data specification in a human readable text format easily shareable with other researchers. These characteristics make ukbREST an important tool to make biobank's valuable data more readily accessible to the research community and facilitate reproducibility of the analysis, a key aspect of science. AVAILABILITY AND IMPLEMENTATION: It is implemented in Python using the Flask-RESTful framework for the API, and it is under the MIT license. It works with PostgreSQL and a Docker image is available for easy deployment. The source code and documentation is available in Github: https://github.com/hakyimlab/ukbrest.

The reproducibility of research in bioinformatics refers to the notion that new methodologies/algorithms and scientific claims have to be published together with their data and source code, in a way that other researchers may verify the findings to further build more knowledge on them. The replication and corroboration of research results are key to the scientific process, and many journals are discussing the matter nowadays, taking concrete steps in this direction. In this journal itself, a recent opinion note has appeared highlighting the increasing importance of this topic in bioinformatics and computational biology, inviting the community to further discuss the matter. In agreement with that article, we would like to propose here another step into that direction with a tool that allows the automatic generation of a web interface, named web-demo, directly from source code in a simple and straightforward way. We believe this contribution can help make research not only reproducible but also more easily accessible. A web-demo associated to a published paper can accelerate an algorithm validation with real data, wide-spreading its use with just a few clicks.