TeSS is the ELIXIR Training Portal, and has been developed in the Training Platform programme

Epitranscriptome modifications are now emerging as important factors to fine tune gene expression and regulation. Among them, A-to-I RNA editing by ADAR enzymes plays relevant biological roles and has been linked to several human diseases. Thanks to deep transcriptome sequencing data, A-to-I events have been characterized at single nucleotide level and collected in the REDIportal database, a unique and specialized resource comprising about 16 millions of changes detected in more than 9000 human GTEx RNAseq data.

The ELIXIR Rare Disease (RD) community encompasses life science IT infrastructure developers, data scientists, and training experts within ELIXIR nodes who specifically target rare disease objectives. Associated are RD stakeholders who define overarching challenges for RD research, such as IRDiRC, ERNs, the EJP-RD, EURORDIS and patient organisations, and other infrastructures that serve the rare disease community, such as EOSC, INFRAFRONTIER, BBMRI, EATRIS or ECRIN.

The primary objective is to curate high-quality biochemical knowledge (reactions/enzymes/ genes) on lipid metabolism, working with lipid experts worldwide. The data will be housed in a shared resource created in partnership between two ELIXIR data services, LIPID MAPS (ELIXIR-UK), and WikiPathways (ELIXIR-NL).
To achieve this:

Health research is advanced through a deeper understanding of disease aetiology provided by detecting associations between genetic variants and disease traits in population samples. The GWAS Central and DisGeNET data services provide extensive gene/variant-phenotype/disease associations. However, an absence of tools and resources to support the text mining of comprehensive data sources prevents scalable import of association data, which is currently limited to text mining abstracts or requires manual curation.

The Food and Nutrition (F&N) Community has already collated datasets, FAIRified several of its data sources and developed tools that would be immediately available for the meaningful harmonization, integration and analysis of these datasets. However, to date, efforts are still fragmented and the integration requires a wide range of data science, better ontologies, improved databases, data harmonization, algorithms and tools for easy sharing and dissemination of the data.

This Implementation Study plans to support the global scientific community by pioneering the community manager role in Bioschemas. Expected outcome includes a stable framework for the governance and role of this managerial task. This includes the global community outreach and interaction, and contribution to the technical planning of the tools supporting Bioschemas mark up and consumption.

The generation of genomic data is rapidly expanding in amount and number of stakeholders, in biomedical applications and beyond. The utilization of such data beyond "single use" scenarios is of paramount importance, for reasons of efficient resource utilization but more importantly to empower federated data analysis models.

Previous ELIXIR Beacon Implementation Studies (IS) have incrementally developed Beacon. The aim of this IS to disseminate the Beacon and ELIXIR Beacon Network (EBN). The Beacon v2 draft2 was presented to ELIXIR, H2020 projects, and GA4GH partner - and was very well received. Consequently requests for implementing the extended Beacon v2 increased significantly.

Biocuration plays a key role in making research data available to the scientific community in a
standardized way. Despite its importance, the contribution and effort of biocurators is extremely
difficult to attribute and quantify. APICURON (https://apicuron.org) is a web server that provides biological databases and organizations with a real-time automatic tracking system of biocuration
activities. APICURON calculates achievements and allows objective evaluation of the volume and