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Solve RD DAC

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Dr Birte Zurek
birte.zurek@med.uni-tuebingen.de

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This DAC controls 10 datasets

Dataset ID	Description	Technology	Samples
EGAD00001009767	Solve-RD data submitted to the ERN-GENTURIS cohort for re-analysis (Data freeze 1+2) v1		1
EGAD00001009768	Solve-RD data submitted to the ERN-EuroNMD cohort for re-analysis (Data freeze 1+2) v1		1
EGAD00001009769	Solve-RD data submitted to the ERN-RND cohort for re-analysis (Data freeze 1+2) v1		1
EGAD00001009770	Solve-RD data submitted to the ERN-ITHACA cohort for re-analysis (Data freeze 1+2) v1		1
EGAD00001015514	Solve-RD SR-WGS data generated for 3 samples provided by the group tuh-kounap	DNBSEQ-G400	1
EGAD00001015811	The dataset includes short-read whole-genome sequencing (SR-WGS) data, SR-RNAseq data, OGM (Bionano) data, LR-WGS data, Epigenetics (RBSS) data and deep-WES data generated within the project Solve-RD from biosamples submitted by the group chud-faivre. The cohorts consists of 111 individuals recruited as part of Solve-RD cohorts 2-4 and aligns with ERN-ITHACA related disease entities (for a description of the Solve-RD cohorts see www.solve-rd.eu/fact-sheet-solve-rd-cohorts).	DNBSEQ-G400 DNBSEQ-T7 Illumina NovaSeq 6000	49
EGAD00001016121	The dataset includes short-read Transcriptomics (SR-RNAseq) data and phenotypic data as well as pedigree information from unsolved rare disease patients (and their relatives) which have been contributed by ERN-RND, ERN-ITHACA, ERN-Euro-NMD, ERN-Epicare, ERN-Genturis and ERN-RITA partners to Solve-RD cohorts 2-4 (for a description of the Solve-RD cohorts see www.solve-rd.eu/fact-sheet-solve-rd-cohorts). The cohort comprises 446 individuals from 308 families, with 503 transcriptomics experiments generated from whole blood, fibroblasts, muscle, or PBMCs. Reference: medRxiv 2026.02.10.26345954; doi: https://doi.org/10.64898/2026.02.10.26345954		1
EGAD00001016125	Solve-RD SR-WGS data generated for 99 samples provided by the group iierspainudp-bermejo.	DNBSEQ-G400 DNBSEQ-T7	1
EGAD00001016580	This dataset contains whole exome sequencing (WES) and short-read whole genome sequencing (SR-WGS) reference data that link directly to the short-read transcriptomics (SR-RNAseq) data stored under accession EGAD00001016121. The genomic data was generated or collected by partners of the European Reference Networks ERN-RND, ERN-ITHACA, ERN-Euro-NMD, ERN-Epicare, ERN-Genturis and ERN-RITA contributing to the Solve-RD project. The underlying RNA-seq cohort encompasses 446 individuals across 308 families, yielding 503 transcriptomics experiments derived from whole blood, fibroblasts, muscle tissue, or PBMCs. This specific companion dataset provides the corresponding WES or SR-WGS reference datasets for 374 of those individuals. Please note that 62 individuals from the RNA-seq cohort do not have accompanying DNA data in this dataset, as the data is either unavailable, was not collected by the Solve-RD consortium, or has not been deposited within the EGA Archive.	DNBSEQ-G400 DNBSEQ-T7	74
EGAD00001016581	This dataset includes genomic (WES and WGS) and phenotypic data as well as pedigree information from unsolved rare disease patients (and their relatives) which have been contributed by ERN-EPICARE partners to Solve-RD cohort 1 (the unsolved cases; for a description of the Solve-RD cohorts see www.solve-rd.eu/fact-sheet-solve-rd-cohorts); No. of experiments: 1665 (1659 WES / 6 WGS); No. of individuals: 1665; No. of affected individuals: 1402; No. of families: 1388		1