Solve-RD Solving the Unsolved Rare Dieseases
Solve-RD – solving the unsolved rare diseases is a research project funded by the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257 from 1 January 2018 to 31 March 2024. Six European Reference Networks (ERNs; ERN-RND, -ITHACA, -EuroNMD, -GENTURIS, -RITA and -EpiCare) contributed data and samples to one or more of the four cohorts for data re-analysis and novel omics. For more information see https://solve-rd.eu/results/solve-rd-data/.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
| Dataset ID | Description | Technology | Samples |
|---|---|---|---|
| EGAD00001009767 | - | ||
| EGAD00001009768 | - | ||
| EGAD00001009769 | - | ||
| EGAD00001009770 | - |
| Publications | Citations |
|---|---|
|
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Eur J Hum Genet 32: 2024 182-189 |
1 |
|
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Eur J Hum Genet 32: 2024 998-1004 |
1 |
|
An interconnected data infrastructure to support large-scale rare disease research.
Gigascience 13: 2024 giae058 |
0 |
|
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
NPJ Genom Med 9: 2024 49 |
0 |