SUMMARY: In public health research and more precisely in the reuse of electronic health data, selecting patients, identifying specific events and interpreting results typically requires biomedical knowledge. The queryMed R package aims to facilitate the integration of medical and pharmacological knowledge stored in formats compliant with the Linked Data paradigm (e.g. OWL ontologies and RDF datasets) into the R statistical programming environment. We show how it allowed us to identify all the drugs prescribed for critical limb ischemia (CLI) and also to detect one contraindicated prescription for one patient by linking a medical database of 1003 CLI patients to ontologies. AVAILABILITY AND IMPLEMENTATION: queryMed is readily usable for medical data mappings and enrichment. Sources, R vignettes and test data are available on GitHub (https://github.com/yannrivault/queryMed) and are archived on Zenodo (https://doi.org/10.5281/zenodo.1323481).

BACKGROUND: Regulation of gene expression plays a pivotal role in cellular functions. However, understanding the dynamics of transcription remains a challenging task. A host of computational approaches have been developed to identify regulatory motifs, mainly based on the recognition of DNA sequences for transcription factor binding sites. Recent integration of additional data from genomic analyses or phylogenetic footprinting has significantly improved these methods. RESULTS: Here, we propose a different approach based on the compilation of Simple Shared Motifs (SSM), groups of sequences defined by their length and similarity and present in conserved sequences of gene promoters. We developed an original algorithm to search and count SSM in pairs of genes. An exceptional number of SSM is considered as a common regulatory pattern. The SSM approach is applied to a sample set of genes and validated using functional gene-set enrichment analyses. We demonstrate that the SSM approach selects genes that are over-represented in specific biological categories (Ontology and Pathways) and are enriched in co-expressed genes. Finally we show that genes co-expressed in the same tissue or involved in the same biological pathway have increased SSM values. CONCLUSIONS: Using unbiased clustering of genes, Simple Shared Motifs analysis constitutes an original contribution to provide a clearer definition of expression networks.

BACKGROUND: Recent advances in automation technologies have enabled the use of flow cytometry for high throughput screening, generating large complex data sets often in clinical trials or drug discovery settings. However, data management and data analysis methods have not advanced sufficiently far from the initial small-scale studies to support modeling in the presence of multiple covariates. RESULTS: We developed a set of flexible open source computational tools in the R package flowCore to facilitate the analysis of these complex data. A key component of which is having suitable data structures that support the application of similar operations to a collection of samples or a clinical cohort. In addition, our software constitutes a shared and extensible research platform that enables collaboration between bioinformaticians, computer scientists, statisticians, biologists and clinicians. This platform will foster the development of novel analytic methods for flow cytometry. CONCLUSION: The software has been applied in the analysis of various data sets and its data structures have proven to be highly efficient in capturing and organizing the analytic work flow. Finally, a number of additional Bioconductor packages successfully build on the infrastructure provided by flowCore, open new avenues for flow data analysis.

UNLABELLED: Automated analysis of flow cytometry (FCM) data is essential for it to become successful as a high throughput technology. We believe that the principles of Trellis graphics can be adapted to provide useful visualizations that can aid such automation. In this article, we describe the R/Bioconductor package flowViz that implements such visualizations. AVAILABILITY: flowViz is available as an R package from the Bioconductor project: http://bioconductor.org