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Statistical methods for enrichment analysis are important tools to extract biological information from omics experiments. Although these methods have been widely used for the analysis of gene and protein lists, the development of high-throughput technologies for regulatory elements demands dedicated statistical and bioinformatics tools. Here, we present a set of enrichment analysis methods for regulatory elements, including CpG sites, miRNAs, and transcription factors. Statistical significance is determined via a power weighting function for target genes and tested by the Wallenius noncentral hypergeometric distribution model to avoid selection bias. These new methodologies have been applied to the analysis of a set of miRNAs associated with arrhythmia, showing the potential of this tool to extract biological information from a list of regulatory elements. These new methods are available in GeneCodis 4, a web tool able to perform singular and modular enrichment analysis that allows the integration of heterogeneous information.

Meta-analysis techniques allow researchers to jointly analyse different studies to determine common effects. In the field of transcriptomics, these methods have gained popularity in recent years due to the increasing number of datasets that are available in public repositories. Despite this, there is a limited number of statistical software packages that implement proper meta-analysis functionalities for this type of data. This article describes DExMA, an R package that provides a set of functions for performing gene expression meta-analyses, from data downloading to results visualization. Additionally, we implemented functions to control the number of missing genes, which can be a major issue when comparing studies generated with different analytical platforms. DExMA is freely available in the Bioconductor repository.

Background Autoimmune diseases are heterogeneous pathologies with difficult diagnosis and few therapeutic options. In the last decade, several omics studies have provided significant insights into the molecular mechanisms of these diseases. Nevertheless, data from different cohorts and pathologies are stored independently in public repositories and a unified resource is imperative to assist researchers in this field. Results Here, we present Autoimmune Diseases Explorer ( https://adex.genyo.es ), a database that integrates 82 curated transcriptomics and methylation studies covering 5609 samples for some of the most common autoimmune diseases. The database provides, in an easy-to-use environment, advanced data analysis and statistical methods for exploring omics datasets, including meta-analysis, differential expression or pathway analysis. Conclusions This is the first omics database focused on autoimmune diseases. This resource incorporates homogeneously processed data to facilitate integrative analyses among studies.

Recent advances in single-cell RNA-Seq (scRNA-Seq) technologies have revolutionized our ability to gather molecular insights into different phenotypes, such as diseases, at the level of individual cells. The analysis of the resulting data poses significant challenges due to their sparsity and large volume, and proper statistical methods are required to analyze and extract information from scRNA-Seq datasets. Sample classification based on gene expression data has proven effective and valuable for precision medicine applications. However, standard classification schemas are often not suitable for scRNA-Seq due to its unique characteristics, and new algorithms are required to effectively analyze and classify samples at the single-cell level. In this article, we introduce singleDeep, an end-to-end pipeline that streamlines the analysis of scRNA-Seq data training deep neural networks, enabling robust prediction and characterization of sample phenotypes. To validate the effectiveness of singleDeep, we applied it to make predictions on scRNA-Seq datasets from different conditions, including systemic lupus erythematosus and Alzheimer's disease. Our results demonstrate strong diagnostic performance, validated both internally and externally. Moreover, compared with traditional machine learning methods applied to pseudobulk data, singleDeep consistently outperformed these approaches. In addition to prediction accuracy, singleDeep provides valuable insights into cell types and gene importance estimation for phenotypic characterization. This functionality provided additional and valuable information in our use cases. For instance, we corroborated that some interferon signature genes are consistently relevant for autoimmunity across all immune cell types in lupus. On the other hand, we discovered that genes linked to dementia have relevant roles in specific brain cell populations, such as APOE in astrocytes.Competing Interest StatementThe authors have declared no competing interest.

Abstract Autoimmune diseases are heterogeneous pathologies with difficult diagnosis and few therapeutic options. In the last decade, several omics studies have provided significant insights into the molecular mechanisms of these diseases. Nevertheless, data from different cohorts and pathologies are stored independently in public repositories and a unified resource is imperative to assist researchers in this field. Here, we present ADEx (https://adex.genyo.es), a database that integrates 82 curated transcriptomics and methylation studies covering 5609 samples for some of the most common autoimmune diseases. The database provides, in an easy-to-use environment, advanced data analysis and statistical methods for exploring omics datasets, including meta-analysis, differential expression or pathway analysis. Competing Interest Statement The authors have declared no competing interest. Footnotes * https://adex.genyo.es