R package

The use of open-source programming languages, such as R, in health decision sciences is growing and has the potential to facilitate model transparency, reproducibility, and shareability. However, realizing this potential can be challenging. Models are complex and primarily built to answer a research question, with model sharing and transparency relegated to being sec- ondary goals. Consequently, code is often neither well documented nor systematically organized in a comprehensible and shareable approach. Moreover, many decision modelers are not formally trained in computer programming and may lack good coding practices, further compounding the problem of model transparency. To address these challenges, we propose a high-level framework for model-based decision and cost-effectiveness analyses (CEA) in R. The proposed framework consists of a conceptual, modular structure and coding recommendations for the implementation of model-based decision analyses in R. This framework defines a set of common decision model elements divided into five components: (1) model inputs, (2) decision model implementation, (3) model calibration, (4) model validation, and (5) analysis. The first four components form the model development phase. The analysis component is the application of the fully developed decision model to answer the policy or the research question of interest, assess decision uncertainty, and/or to determine the value of future research through value of information (VOI) analysis. In this framework, we also make recommendations for good coding practices specific to decision modeling, such as file organization and variable naming conventions. We showcase the framework through a fully functional, testbed decision model, which is hosted on GitHub for free download and easy adaptation to other applications. The use of this framework in decision modeling will improve code readability and model sharing, paving the way to an ideal, open-source world.

Introduction. Recent studies highlight the crucial regulatory roles of transposable elements (TEs) on proximal gene expression in distinct biological contexts such as disease and development. However, computational tools extracting potential TE-proximal gene expression associations from RNA-sequencing data are still missing. Implementation. Herein, we developed a novel R package, using a linear regression model, for studying the potential influence of TE species on proximal gene expression from a given RNA-sequencing data set. Our R package, namely TEffectR, makes use of publicly available RepeatMasker TE and Ensembl gene annotations as well as several functions of other R-packages. It calculates total read counts of TEs from sorted and indexed genome aligned BAM files provided by the user, and determines statistically significant relations between TE expression and the transcription of nearby genes under diverse biological conditions. Availability. TEffectR is freely available at https://github.com/karakulahg/TEffectR along with a handy tutorial as exemplified by the analysis of RNA-sequencing data including normal and tumour tissue specimens obtained from breast cancer patients.