About file location

As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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Solve-RD SR-RNAseq related WES/WGS dataset

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.

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Solve-RD Data Access Policy (default)

https://solve-rd.eu/results/solve-rd-data/ The most recent version of the Data Access Agreement can be found on the project webiste (see Policy URL above).

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001003851 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Quality Report
Located in
i
EGAF00002769026 vcf.gz 13.5 MB Report
EGAF00002769027 vcf.gz 6.0 MB Report
EGAF00002769028 vcf.gz 7.6 MB Report
EGAF00002769029 vcf.gz 7.7 MB Report
EGAF00002769030 vcf.gz 2.9 MB Report
EGAF00002769031 vcf.gz 4.7 MB Report
EGAF00002769032 vcf.gz 5.1 MB Report
EGAF00002769033 vcf.gz 5.6 MB Report
EGAF00002769034 vcf.gz 7.3 MB Report
EGAF00002769035 vcf.gz 2.4 MB Report
EGAF00002769036 vcf.gz 7.5 MB Report
EGAF00002769037 vcf.gz 10.4 MB Report
EGAF00002769038 vcf.gz 3.4 MB Report
EGAF00002769039 vcf.gz 1.7 MB Report
EGAF00002769040 vcf.gz 3.2 MB Report
EGAF00002769041 vcf.gz 8.3 MB Report
EGAF00002769042 vcf.gz 6.1 MB Report
EGAF00002769043 vcf.gz 6.6 MB Report
EGAF00002769044 vcf.gz 7.4 MB Report
EGAF00002769045 vcf.gz 7.2 MB Report
EGAF00002769046 vcf.gz 5.1 MB Report
EGAF00002769047 vcf.gz 5.7 MB Report
EGAF00002769048 vcf.gz 21.5 kB Report
EGAF00002769049 vcf.gz 4.8 MB Report
EGAF00002769050 vcf.gz 37.7 kB Report
EGAF00002769051 bam 15.7 GB Report
EGAF00003103085 vcf.gz 12.2 MB Report
EGAF00003103086 vcf.gz 13.6 MB Report
EGAF00003103087 vcf.gz 13.8 MB Report
EGAF00003103088 vcf.gz 6.5 MB Report
EGAF00003103089 vcf.gz 8.3 MB Report
EGAF00003103090 vcf.gz 9.9 MB Report
EGAF00003103091 vcf.gz 10.0 MB Report
EGAF00003103092 vcf.gz 12.7 MB Report
EGAF00003103093 vcf.gz 5.5 MB Report
EGAF00003103094 vcf.gz 11.5 MB Report
EGAF00003103095 vcf.gz 25.9 MB Report
EGAF00003103096 vcf.gz 6.3 MB Report
EGAF00003103097 vcf.gz 3.6 MB Report
EGAF00003103098 vcf.gz 5.3 MB Report
EGAF00003103099 vcf.gz 20.8 MB Report
EGAF00003103100 vcf.gz 16.1 MB Report
EGAF00003103101 vcf.gz 12.9 MB Report
EGAF00003103102 vcf.gz 13.4 MB Report
EGAF00003103103 vcf.gz 14.2 MB Report
EGAF00003103104 vcf.gz 14.2 MB Report
EGAF00003103105 vcf.gz 10.8 MB Report
EGAF00003103106 vcf.gz 11.2 MB Report
EGAF00003103107 bam 24.6 GB Report
EGAF00003103108 vcf.gz 6.6 kB Report
EGAF00003103109 vcf.gz 9.7 MB Report
EGAF00003103110 vcf.gz 114.1 kB Report
EGAF00003103111 vcf.gz 371.6 MB Report
EGAF00003103112 vcf.gz 370.7 MB Report
EGAF00003103113 vcf.gz 373.6 MB Report
EGAF00003103114 vcf.gz 262.4 MB Report
EGAF00003103115 vcf.gz 249.5 MB Report
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EGAF00003103119 vcf.gz 207.4 MB Report
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EGAF00003103121 vcf.gz 638.7 MB Report
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EGAF00003103123 vcf.gz 97.4 MB Report
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EGAF00003103125 vcf.gz 663.2 MB Report
EGAF00003103126 vcf.gz 543.1 MB Report
EGAF00003103127 vcf.gz 513.2 MB Report
EGAF00003103128 vcf.gz 489.1 MB Report
EGAF00003103129 vcf.gz 466.2 MB Report
EGAF00003103130 vcf.gz 439.6 MB Report
EGAF00003103131 vcf.gz 392.5 MB Report
EGAF00003103132 vcf.gz 325.8 MB Report
EGAF00003103133 bam 147.3 GB Report
EGAF00003103134 vcf.gz 7.3 kB Report
EGAF00003103135 vcf.gz 398.4 MB Report
EGAF00003103136 vcf.gz 704.6 kB Report
EGAF00003151907 vcf.gz 6.2 MB Report
EGAF00003151908 vcf.gz 7.4 MB Report
EGAF00003151909 vcf.gz 7.6 MB Report
EGAF00003151910 vcf.gz 3.1 MB Report
EGAF00003151911 vcf.gz 4.5 MB Report
EGAF00003151912 vcf.gz 5.1 MB Report
EGAF00003151913 vcf.gz 5.7 MB Report
EGAF00003151914 vcf.gz 7.4 MB Report
EGAF00003151915 vcf.gz 2.5 MB Report
EGAF00003151916 vcf.gz 7.7 MB Report
EGAF00003151917 vcf.gz 13.6 MB Report
EGAF00003151918 vcf.gz 3.3 MB Report
EGAF00003151919 vcf.gz 1.7 MB Report
EGAF00003151920 vcf.gz 3.2 MB Report
EGAF00003151921 vcf.gz 10.6 MB Report
EGAF00003151922 vcf.gz 8.3 MB Report
EGAF00003151923 vcf.gz 6.3 MB Report
EGAF00003151924 vcf.gz 6.7 MB Report
EGAF00003151925 vcf.gz 7.2 MB Report
EGAF00003151926 vcf.gz 7.4 MB Report
EGAF00003151927 vcf.gz 5.1 MB Report
EGAF00003151928 vcf.gz 5.8 MB Report
EGAF00003151929 bam 16.2 GB Report
EGAF00003151930 vcf.gz 19.9 kB Report
EGAF00003151931 vcf.gz 4.9 MB Report
EGAF00003151932 vcf.gz 25.7 kB Report
EGAF00003152037 vcf.gz 6.0 MB Report
EGAF00003152038 vcf.gz 7.5 MB Report
EGAF00003152039 vcf.gz 7.6 MB Report
EGAF00003152040 vcf.gz 3.0 MB Report
EGAF00003152041 vcf.gz 4.5 MB Report
EGAF00003152042 vcf.gz 5.2 MB Report
EGAF00003152043 vcf.gz 5.7 MB Report
EGAF00003152044 vcf.gz 7.5 MB Report
EGAF00003152045 vcf.gz 2.5 MB Report
EGAF00003152046 vcf.gz 7.6 MB Report
EGAF00003152047 vcf.gz 13.6 MB Report
EGAF00003152048 vcf.gz 3.3 MB Report
EGAF00003152049 vcf.gz 1.7 MB Report
EGAF00003152050 vcf.gz 3.2 MB Report
EGAF00003152051 vcf.gz 10.5 MB Report
EGAF00003152052 vcf.gz 8.2 MB Report
EGAF00003152053 vcf.gz 6.1 MB Report
EGAF00003152054 vcf.gz 6.6 MB Report
EGAF00003152055 vcf.gz 7.1 MB Report
EGAF00003152056 vcf.gz 7.2 MB Report
EGAF00003152057 vcf.gz 5.0 MB Report
EGAF00003152058 vcf.gz 5.7 MB Report
EGAF00003152059 bam 13.7 GB Report
EGAF00003152060 vcf.gz 11.4 kB Report
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EGAF00003152062 vcf.gz 22.6 kB Report
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EGAF00003152199 vcf.gz 5.9 MB Report
EGAF00003152200 vcf.gz 7.8 MB Report
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EGAF00003152202 vcf.gz 8.1 MB Report
EGAF00003152203 vcf.gz 14.2 MB Report
EGAF00003152204 vcf.gz 3.6 MB Report
EGAF00003152205 vcf.gz 1.9 MB Report
EGAF00003152206 vcf.gz 3.4 MB Report
EGAF00003152207 vcf.gz 11.2 MB Report
EGAF00003152208 vcf.gz 8.7 MB Report
EGAF00003152209 vcf.gz 6.7 MB Report
EGAF00003152210 vcf.gz 7.1 MB Report
EGAF00003152211 vcf.gz 7.6 MB Report
EGAF00003152212 vcf.gz 7.8 MB Report
EGAF00003152213 vcf.gz 5.5 MB Report
EGAF00003152214 vcf.gz 6.1 MB Report
EGAF00003152215 bam 18.1 GB Report
EGAF00003152216 vcf.gz 28.4 kB Report
EGAF00003152217 vcf.gz 5.3 MB Report
EGAF00003152218 vcf.gz 32.8 kB Report
EGAF00003156899 vcf.gz 12.4 MB Report
EGAF00003156900 vcf.gz 13.2 MB Report
EGAF00003156901 vcf.gz 14.4 MB Report
EGAF00003156902 vcf.gz 6.5 MB Report
EGAF00003156903 vcf.gz 8.7 MB Report
EGAF00003156904 vcf.gz 9.6 MB Report
EGAF00003156905 vcf.gz 11.3 MB Report
EGAF00003156906 vcf.gz 14.2 MB Report
EGAF00003156907 vcf.gz 5.4 MB Report
EGAF00003156908 vcf.gz 14.6 MB Report
EGAF00003156909 vcf.gz 25.5 MB Report
EGAF00003156910 vcf.gz 6.7 MB Report
EGAF00003156911 vcf.gz 3.4 MB Report
EGAF00003156912 vcf.gz 6.1 MB Report
EGAF00003156913 vcf.gz 20.2 MB Report
EGAF00003156914 vcf.gz 16.1 MB Report
EGAF00003156915 vcf.gz 12.7 MB Report
EGAF00003156916 vcf.gz 13.2 MB Report
EGAF00003156917 vcf.gz 14.1 MB Report
EGAF00003156918 vcf.gz 15.1 MB Report
EGAF00003156919 vcf.gz 10.7 MB Report
EGAF00003156920 vcf.gz 11.2 MB Report
EGAF00003156921 bam 18.2 GB Report
EGAF00003156922 vcf.gz 25.6 kB Report
EGAF00003156923 vcf.gz 6.1 MB Report
EGAF00003156924 vcf.gz 583.4 kB Report
EGAF00003157341 vcf.gz 201.6 MB Report
EGAF00003157342 vcf.gz 200.8 MB Report
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EGAF00003157344 vcf.gz 144.9 MB Report
EGAF00003157345 vcf.gz 135.6 MB Report
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EGAF00003157351 vcf.gz 351.0 MB Report
EGAF00003157352 vcf.gz 92.1 MB Report
EGAF00003157353 vcf.gz 53.6 MB Report
EGAF00003157354 vcf.gz 54.9 MB Report
EGAF00003157355 vcf.gz 361.8 MB Report
EGAF00003157356 vcf.gz 295.7 MB Report
EGAF00003157357 vcf.gz 284.9 MB Report
EGAF00003157358 vcf.gz 267.9 MB Report
EGAF00003157359 vcf.gz 257.2 MB Report
EGAF00003157360 vcf.gz 243.8 MB Report
EGAF00003157361 vcf.gz 214.9 MB Report
EGAF00003157362 vcf.gz 179.4 MB Report
EGAF00003157363 bam 201.0 GB
EGAF00003157364 vcf.gz 7.1 kB Report
EGAF00003157365 vcf.gz 277.8 MB Report
EGAF00003157366 vcf.gz 32.5 MB Report
EGAF00003191073 vcf.gz 154.1 MB Report
EGAF00003191074 vcf.gz 148.8 MB Report
EGAF00003191075 vcf.gz 152.1 MB Report
EGAF00003191076 vcf.gz 97.6 MB Report
EGAF00003191077 vcf.gz 102.2 MB Report
EGAF00003191078 vcf.gz 98.3 MB Report
EGAF00003191079 vcf.gz 108.0 MB Report
EGAF00003191080 vcf.gz 112.8 MB Report
EGAF00003191081 vcf.gz 80.4 MB Report
EGAF00003191082 vcf.gz 100.6 MB Report
EGAF00003191083 vcf.gz 268.1 MB Report
EGAF00003191084 vcf.gz 74.3 MB Report
EGAF00003191085 vcf.gz 40.9 MB Report
EGAF00003191086 vcf.gz 53.1 MB Report
EGAF00003191087 vcf.gz 258.7 MB Report
EGAF00003191088 vcf.gz 205.5 MB Report
EGAF00003191089 vcf.gz 187.5 MB Report
EGAF00003191090 vcf.gz 185.4 MB Report
EGAF00003191091 vcf.gz 178.1 MB Report
EGAF00003191092 vcf.gz 181.0 MB Report
EGAF00003191093 vcf.gz 152.8 MB Report
EGAF00003191094 vcf.gz 141.0 MB Report
EGAF00003191095 bam 206.4 GB Report
EGAF00003191096 vcf.gz 7.1 kB Report
EGAF00003191097 vcf.gz 415.9 MB Report
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EGAF00003231654 vcf.gz 63.1 MB Report
EGAF00003231655 vcf.gz 189.5 MB Report
EGAF00003231656 vcf.gz 50.6 MB Report
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EGAF00003231659 vcf.gz 193.9 MB Report
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EGAF00003231666 vcf.gz 103.8 MB Report
EGAF00003231667 bam 221.1 GB
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EGAF00003239342 vcf.gz 5.7 MB Report
EGAF00003239343 bam 11.6 GB Report
EGAF00003239344 vcf.gz 36.0 kB Report
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EGAF00003253620 vcf.gz 218.8 MB Report
EGAF00003253621 vcf.gz 221.1 MB Report
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EGAF00008428823 fq.gz 46.8 GB
EGAF00008428824 fq.gz 44.5 GB
EGAF00008428825 fq.gz 47.0 GB
EGAF00008428826 fq.gz 37.0 GB
EGAF00008428827 fq.gz 39.0 GB
EGAF00008428836 fq.gz 43.9 GB
EGAF00008428837 fq.gz 46.5 GB
EGAF00008428838 fq.gz 12.9 GB
EGAF00008428839 fq.gz 13.9 GB
EGAF00008428840 fq.gz 27.1 GB
EGAF00008428841 fq.gz 28.7 GB
EGAF00008428842 fq.gz 41.7 GB
EGAF00008428843 fq.gz 43.7 GB
EGAF00008428844 fq.gz 32.2 GB
EGAF00008428845 fq.gz 32.9 GB
EGAF00008428846 fq.gz 8.6 GB
EGAF00008428847 fq.gz 8.8 GB
EGAF00008428878 fq.gz 42.3 GB
EGAF00008428879 fq.gz 44.9 GB
EGAF00008428880 fq.gz 39.1 GB
EGAF00008428881 fq.gz 41.2 GB
EGAF00008428882 fq.gz 42.3 GB
EGAF00008428883 fq.gz 44.2 GB
12235 Files (43.5 TB)