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 |
|---|---|---|---|
| EGAD00001005352 | - | ||
| EGAD00001006605 | - | ||
| EGAD00001006606 | - | ||
| EGAD00001006607 | - | ||
| EGAD00001006870 | DNBSEQ-G400 DNBSEQ-T7 | 1652 | |
| EGAD00001007797 | - | ||
| EGAD00001007984 | - | ||
| EGAD00001007985 | - | ||
| EGAD00001007986 | - | ||
| EGAD00001008102 | - | ||
| EGAD00001008103 | DNBSEQ-G400 | 1 | |
| EGAD00001008104 | DNBSEQ-G400 DNBSEQ-T7 | 48 | |
| EGAD00001008167 | DNBSEQ-G400 DNBSEQ-T7 | 9 | |
| EGAD00001008168 | DNBSEQ-G400 DNBSEQ-T7 | 10 | |
| EGAD00001008169 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001008170 | DNBSEQ-G400 | 1 | |
| EGAD00001008171 | DNBSEQ-G400 DNBSEQ-T7 | 1 | |
| EGAD00001008172 | DNBSEQ-G400 DNBSEQ-T7 | 13 | |
| EGAD00001008173 | DNBSEQ-G400 DNBSEQ-T7 | 3 | |
| EGAD00001008174 | DNBSEQ-G400 DNBSEQ-T7 | 43 | |
| EGAD00001008175 | DNBSEQ-G400 DNBSEQ-T7 | 7 | |
| EGAD00001008176 | DNBSEQ-G400 | - | |
| EGAD00001008177 | DNBSEQ-G400 DNBSEQ-T7 | 2 | |
| EGAD00001008178 | DNBSEQ-G400 | 4 | |
| EGAD00001008179 | DNBSEQ-G400 | 2 | |
| EGAD00001008180 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001008181 | DNBSEQ-G400 DNBSEQ-T7 | 3 | |
| EGAD00001008602 | - | ||
| EGAD00001008603 | - | ||
| EGAD00001008604 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001008605 | - | ||
| EGAD00001008606 | - | ||
| EGAD00001008607 | Illumina NovaSeq 6000 | 363 | |
| EGAD00001009038 | DNBSEQ-G400 | - | |
| EGAD00001009039 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001009040 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001009055 | - | ||
| EGAD00001009767 | - | ||
| EGAD00001009768 | - | ||
| EGAD00001009769 | - | ||
| EGAD00001009770 | - | ||
| EGAD00001010261 | - | ||
| EGAD00001010262 | - | ||
| EGAD00001010263 | Illumina NovaSeq 6000 | 175 | |
| EGAD00001012105 | DNBSEQ-G400 | - | |
| EGAD00001012106 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001012107 | DNBSEQ-G400 DNBSEQ-T7 | - | |
| EGAD00001012108 | Illumina NovaSeq 6000 | - | |
| EGAD00001012109 | Illumina NovaSeq 6000 | - | |
| EGAD00001012111 | Illumina NovaSeq 6000 | - | |
| EGAD00001012112 | Illumina NovaSeq 6000 | - | |
| EGAD00001012113 | Illumina NovaSeq 6000 | - | |
| EGAD00001012114 | - | ||
| EGAD00001012115 | - |
| 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 |