BACKGROUND: The adoption of whole genome and exome sequencing (WGS/WES) is expanding rapidly, yet variant interpretation remains a critical bottleneck, limiting diagnostic yield and delaying precision care. We present ACVI-Med (Accelerated Candidate Variant Interpretation in Medicine), an open-source, on-premise platform for comprehensive analysis of genomic data. RESULTS: ACVI-Med integrates phenotype-aware filtering, ACMG-guided variant classification, and secondary findings detection into a unified, containerized system built for reproducibility and deployment across diverse institutional environments. Designed for accessibility, ACVI-Med enables users without extensive bioinformatics expertise to interpret variants from VCF (Variant Call Format) files through a flexible interface supporting phenotype-driven filtering, ACMG-guided variant classification, and integration of population, clinical, and predictive annotations. The software incorporates modules for secondary findings detection, aligned with ACMG Secondary Findings v3.2 recommendations, extending its utility beyond primary variant analysis. ACVI-Med’s customizable filtering logic, real-time access to curated knowledge bases, and interactive visualization tools support transparent and reproducible genomic interpretation. CONCLUSION: ACVI-Med is an open-source software for genomic variant interpretation. Unlike commercial solutions, ACVI-Med is cost-effective, containerized, and can be institutionally self-hosted, reducing barriers to adoption in research settings.

MOTIVATION: ReactomeGSA is part of the Reactome knowledgebase and one of the leading multi-omics pathway analysis platforms. ReactomeGSA provides access to quantitative pathway analysis methods supporting different 'omics data types. Additionally, ReactomeGSA can process different datasets simultaneously, leading to a comparative pathway analysis that can also be performed across different species. RESULTS: We present a major update to the ReactomeGSA analysis platforms that greatly simplifies the reuse and direct integration of public data. In order to increase the number of available datasets, we developed the new grein_loader Python application that can directly fetch experiments from the GREIN resource. This enabled us to support both EMBL-EBI's Expression Atlas and GEO RNA-seq Experiments Interactive Navigator within ReactomeGSA. To further increase the visibility and simplify the reuse of public datasets, we integrated a novel search function into ReactomeGSA that enables users to search for public datasets across both supported resources. Finally, we completely re-developed ReactomeGSA's web-frontend and R/Bioconductor package to support the new search and loading features, and greatly simplify the use of ReactomeGSA. AVAILABILITY AND IMPLEMENTATION: The new ReactomeGSA web frontend is available at https://www.reactome.org/gsa with an built-in, interactive tutorial. The ReactomeGSA R package (https://bioconductor.org/packages/release/bioc/html/ReactomeGSA.html) is available through Bioconductor and shipped with detailed documentation and vignettes. The grein_loader Python application is available through the Python Package Index (pypi). The complete source code for all applications is available on GitHub at https://github.com/grisslab/grein_loader and https://github.com/reactome.

BACKGROUND: Automatic cell type identification is essential to alleviate a key bottleneck in scRNA-seq data analysis. While most existing classification tools show good sensitivity and specificity, they often fail to adequately not-classify cells that are missing in the used reference. Additionally, many tools do not scale to the continuously increasing size of current scRNA-seq datasets. Therefore, additional tools are needed to solve these challenges. RESULTS: scAnnotatR is a novel R package that provides a complete framework to classify cells in scRNA-seq datasets using pre-trained classifiers. It supports both Seurat and Bioconductor's SingleCellExperiment and is thereby compatible with the vast majority of R-based analysis workflows. scAnnotatR uses hierarchically organised SVMs to distinguish a specific cell type versus all others. It shows comparable or even superior accuracy, sensitivity and specificity compared to existing tools while being able to not-classify unknown cell types. Moreover, scAnnotatR is the only of the best performing tools able to process datasets containing more than 600,000 cells. CONCLUSIONS: scAnnotatR is freely available on GitHub ( https://github.com/grisslab/scAnnotatR ) and through Bioconductor (from version 3.14). It is consistently among the best performing tools in terms of classification accuracy while scaling to the largest datasets.

MOTIVATION: BioContainers (biocontainers.pro) is an open-source and community-driven framework which provides platform independent executable environments for bioinformatics software. BioContainers allows labs of all sizes to easily install bioinformatics software, maintain multiple versions of the same software and combine tools into powerful analysis pipelines. BioContainers is based on popular open-source projects Docker and rkt frameworks, that allow software to be installed and executed under an isolated and controlled environment. Also, it provides infrastructure and basic guidelines to create, manage and distribute bioinformatics containers with a special focus on omics technologies. These containers can be integrated into more comprehensive bioinformatics pipelines and different architectures (local desktop, cloud environments or HPC clusters). AVAILABILITY AND IMPLEMENTATION: The software is freely available at github.com/BioContainers/. CONTACT: [email protected].