Other documents

Video: Solve-RD webinar on advanced features of the RD-Connect GPAP
Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients.
This webinar is addressed to 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).
Video: Solve-RD webinar on basic analysis using the RD-Connect GPAP
Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to analyse exome and genome sequencing data of rare disease patients.
In this webinar we will show Solve-RD partners that have no (or very few) previous experience how to analyse (filter and prioritise) 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.
Treatabolome

Solve-RD WP3 aims at changing patient lives via the establishment of a "Treatabolome" database flagging treatable genes and variants which will contribute to the translation of genomics data into the clinical setting.

Solve-RD Data Sharing Policy

The Solve-RD Data Sharing Policy explains how data is being shared witin Solve-RD and outside the project (e.g. via the RD-Connect Genome-Phenome Analysis Platform).

Solve-RD publication policy

The Solve-RD Publication Policy provides detailed information about authors' responsibilities with regard to publication of shared data and data resulting from the Solve-RD project. It also explains how to acknowledge Solve-RD funding, use of the RD-Connect Genome-Phenome Analysis Platform and ERN involvement.

Fact Sheet: Solve-RD cohorts

Solve-RD aims to find a diagnosis for rare disease patients who did not get a molecular diagnosis so far. We will compare the potential of different -omics technologies regarding their contribution to solve the pathogenicity in different patient cohorts, reaching from neurodevelopmental to late onset diseases including diagnostic specialties like cancer. The clinical expertise of numerous European Reference Networks (ERNs) is integrated by clinically well selected patient cohorts. This FACT SHEET gives an overview of the four Solve-RD cohorts of rare disease patients which have been defined.

Solve-RD – Solving the Unsolved Rare Diseases.

A few slides to get an impression of the project.

Solve-RD poster

The Solve-RD poster has been presented at the ECRD conference in Vienna 2018 and at the ESHG conference in Milan 2018.