Systems Biology Service Bundles for Rare Diseases

The analysis workflows in the systems biology Service Bundle for rare diseases cover a variety of tasks that are demanded for rare disease data analysis.  For example, it is possible to collect biomedical expert knowledge, e.g. from published papers, databases etc., and make the results machine readable for pathway and network analysis and to link it with information from other databases.

ELIXIR Trainground for Rare Diseases

The ELIXIR Trainground for Rare Diseases Service Bundle is intended as a non-commercial alternative to cloud learning management systems (LMS) that are used for training in the field of genomic analysis. Our platform, the ELIXIR-SI eLearning Platform (EeLP), brings together a cloud (tools, pipelines and services), repository for learning materials, interactive online teaching features, and user management with ELIXIR AAI through a single-access point.

3D-BioInfo Community Implementation Study

A very broad and active community of structural bioinformaticians exists across Europe. The structural Bioinformatics Community (3D-BioInfo) was officially created in May 2019. Our mission will be to better integrate protein structure-based data and tools across Europe, and to improve standardisation through better ontologies for the data and agreed benchmarking of methods. We will also strengthen the ties with the structural biology research communities in Europe and undertake dedicated educational, training and outreach efforts.

This project will focus on four main topics:

Assessing Molecular Pathogenicity for Rare Diseases

The ELIXIR Service Bundle "Assessing Molecular Pathogenicity for Rare Diseases" (AMP4RD) aims to define the procedures and guidelines for the annotation and interpretation of genetic variants in the human genome. Our initiative aims to implement an integrated infrastructure for characterizing the relationship between genotype and phenotype both from the clinical and research perspectives, and  deliver computing workflows and tools for the annotation and interpretation of genetic variants.

Weekly Brief, 6 July 2020

ELIXIR 2019 Annual Report

ELIXIR has published its Annual Report for 2019 showcasing the major achievements in the last year and highlighting the effort of over 700 experts from 22 ELIXIR Nodes. The report presents ELIXIR services across ELIXIR Nodes and reports on the progress made towards the Strategic Objectives of the 20192023 Scientific Programme.