Weekly Brief, 8 July 2024

This week's highlights

New staff joins the Hub

Louise Lattimore joins ELIXIR as the Executive Assistant to the Director.

Demystifying ELIXIR webinar

11 July 2024 | 15:00 - 16:00 CEST

If you missed the successful All Hands workshop, then join us online for a rerun, followed by Q&A.
The webinar is targetted at those with two or less years of experience in ELIXIR, but all are welcome. It will be recorded for those unable to attend.

More information and registration

Recommended reads

DUVEL: an active-learning annotated biomedical corpus for the recognition of oligogenic combinations

An ELIXIR-BE paper

This work presents the creation of a unique dataset of oligogenic variant combinations, geared to train tools to help in the curation of scientific literature. To overcome the hurdles associated with the number of unlabelled instances and the cost of expertise, active learning (AL) was used to optimise the annotation, thus getting assistance in finding the most informative subset of samples to label. The resulting dataset - DUVEL - is used to fine-tune four state-of-the-art biomedical language models. This study shows how AL may play an important role in the creation of bioRE dataset relevant for biomedical curation applications.

Read more

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies

An EJP RD | ELIXIR-ES paper

Peripheral neuropathies in mitochondrial disease are caused by mutations in nuclear genes encoding mitochondrial proteins, or in the mitochondrial genome. The genome-phenome analysis platform in RD-Connect was utilised to create a cohort of 2087 patients with at least one Human Phenotype Ontology (HPO) term suggestive of peripheral neuropathy. Variants in mitochondrial disease genes are frequent in patients with inherited peripheral neuropathies. Due to the clinical overlap between mitochondrial disease and CMT, agnostic exome or genome sequencing have better diagnostic yields than targeted gene panels.

Read more

Updates from Communities

Ask us anything - a live Q&A session

19 July 2024 | 11:00 - 12:00 CEST

The European Galaxy Team offers a Q&A session around Galaxy where you can ask questions about data analysis, tools & workflows, infrastructure & resources or training & workshops.

More information and registration

Updates from other initiatives

A practical introduction to bioinformatics and RNA-seq using Galaxy

10 - 13 Sepetmber 2024 | Online

This practical introduction to bioinformatics will explain key concepts of sequencing data analysis and provide an overview of bioinformatics data analysis.

More information and registration

The European joint programme on rare diseases: building the rare diseases research ecosystem

This article published in the Rare Diseases and Orphan Drugs Journal delves into the project's collective achievements and ongoing efforts to foster a robust research environment for rare diseases.

Read the article

Upcoming ELIXIR events & webinars

ELIXIR Training Courses & Webinars

The ELIXIR TeSS portal has a variety of interesting events and courses organised by the ELIXIR Nodes. For more, visit TeSS portal

ELIXIR Events and Conferences

ECCB 2024
16-20 September 2024 | Turku, Finland

ELIXIR Data Platform F2F 2024
1 - 2 October 2024 | Padova, Italy

ELIXIR STEERS WP2 & WP3 Workshop
2 - 3 October 2024 | Padova, Italy

BioHackathon Europe 2024
4 - 8 November 2024 | Barcelona, Spain

Job vacancies

All vacancies are also published on the ELIXIR website (also including those from industry). If you need our help communicating your new open positions, you can submit a job advertisement and it will automatically appear on our newsletters. Go to our vacancy page to submit a job
 

EC Project Manager

ELIXIR

Senior Bioinformatician / Bioinformatician

Earlham Institute

Software Support Technician

I2SysBio-CSIC

Biocurator

EMBL-EBI

Genome Analysis Team Leader

EMBL-EBI