Category: News

Solve-RD will host two webinars on features of the RD-Connect Genome-Phenome Analysis Platform (GPAP) in December 2019. The first webinar focuses on basic analysis and the second webinar focuses on advanced platform features. Everyone who is interested is invited to register and join the webinars.

Webinar 1: RD-Connect GPAP webinar- basic analysis

Time: Monday, 9 Dec 2019; 2-3 pm CET

Speaker: Steven Laurie (CNAG, Barcelona)

Audience: Solve-RD partners that have no (or very few) previous experience analysing (filtering and prioritising) genomic data through the GPAP. Users will learn how to filter and prioritise variants (SNVs, InDels, and CNVs) using common annotations and on-the-fly gene panels associated to diseases, phenotypes, and pathways (OMIM, ORDO, HPO, PanelApp, Reactome), how to interpret genomic variants according to ACMG guidelines and how to use integrated tools such as Exomiser, Mendelian.co, ClinVar, and Varsome.

Registration link: https://zoom.us/webinar/register/WN_9zsilWqnTKu6r5W8ZD_lNg

Webinar 2: RD-Connect GPAP webinar- advanced platform features

Time: Monday, 16 Dec 2019; 2-3 pm CET

Speaker: Leslie Matalonga (CNAG, Barcelona)

Audience: Solve-RD partners that already have previous experience analysing (filtering and prioritising) genomic data through the GPAP and/or have attended the workshop on basic analysis. Users will learn how to use advanced features integrated in the system such as: i) Matchmaker exchange, ii) search for specific gene/variants across all samples, iii) TAG and share variants / queries, iv) create specific cohorts based on phenotypic data and v) post analysis management (analysis status and solved cases).

Registration Link: https://zoom.us/webinar/register/WN_TZochyQ6TSmIQ8whE7O_LQ

Solve-RD will re-analyse 19,000 exomes and genomes from undiagnosed rare disease patients. By now, more than 8,500 datasets (i.e. unsolved exomes/genomes) have been submitted to the RD-Connect Genome-Phenome Analysis Platform (https://platform.rd-connect.eu)!They have been contributed by our four core ERNs: ERN-ITHACA, ERN-RND, EURO-NMD, and ERN-GENTURIS.

Once all datasets have been processed they will be analysed by the different working groups we established.

The CNAG-CRG is looking for a bioinformatician to participate in the analysis and management of rare disease data, mostly related to the EC funded Solve-RD project (www.solve-rd.eu). Solve-RD aims to contribute to the IRDiRC vision by solving large numbers of undiagnosed rare diseases through sophisticated data analysis and integrated omics approaches. Thousands of undiagnosed exomes and genomes from Rare Disease patients are being collated at the CNAG-CRG using the RD-Connect Genome-Phenome Analysis Platform (https://rd-connect.eu; https://platform.rd-connect.eu). Solve-RD is also generating hundreds of other -omics datasets and the partners are collaboratively analysis the data using state-of-the-art and novel methods.

More info can be found here.

Solve-RD partner LEDi Health Economics Team, University of Burgundy organizes the “ European Conference on the Diffusion of Genomic Medicine: Health Economics & Policy “ on May 28th and 29th, 2020, in Dijon (France).

This two-day symposium alternates plenary sessions and parallel thematic sessions and brings together researchers in the human sciences, mainly in health economics, but also researchers from other disciplines. It will contribute to the development of research in genomic medicine concerning its evaluation, its dissemination, and the public policies accompanying this new type of medicine.

More information: Conference flyer and website.

Interactive Invited Workshop: Solving Rare Diseases with the RD-Connect Genome-Phenome Analysis Platform (GPAP)

When: Monday, 15 October 2019, 6:30pm-8:30pm

Where: ASHG 2019 Annual Meeting, Houston, USA

Register here.

The Dutch X-Omics infrastructure is organising a summerschool at  Radboudumc in Nijmegen on integrative -omics approaches for personalized healthcare.

Dates: 1-5 July 2019

What: lectures, hands-on computer practicals, use cases

For more information see here. The course programme can be found here.

A postdoctoral researcher position in Genomics, Bioinformatics, and Statistical Genetics is available in the Computational Genomics group at the Institute of Medical Genetics and Applied Genomics. We are looking for an early experienced, highly motivated researcher with a strong enthusiasm to conduct cutting-edge research at the interface of computational biology and clinical genomics. The position is part of the EU-funded research project “Solve-RD – Solving the Unsolved Rare Diseases” (www.solve-rd.eu), in which we apply the latest sequencing technologies such as whole-genome sequencing, long-read RNA-seq and single cell sequencing to investigate 19,000 unsolved cases of rare genetic diseases. The successful candidate will be part of a large European network of researchers working on computational genomics, rare genetic diseases and personalized medicine.

See job posting here.