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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Usher patients and USH2A-associated RP patients

This is a Next Generation Sequencing approach based on whole Usher Syndrome genes sequencing with the aim of diagnosing USH patients and USH2A-associated RP patients

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DUO:0000042
version: 2019-01-07

general research use

This data use permission indicates that use is allowed for general research use for any research purpose.

This policy describes the guidelines governing the publication of our data

José M. Millán intend to publish the results of their analysis of this dataset and do not consider its deposition into public databases to be the equivalent of such publications. José M. Millán anticipate that the dataset could be useful to other qualified researchers for a variety of purposes. However, some areas of work are subject to a publication moratorium. The publication moratorium covers any publications (including oral communications) that describe the use of the dataset. For research papers, submission for publication should not occur until one months after these data were first made available on the relevant hosting database, unless José M. Millán has provided written consent to earlier submission. In any publications based on these data, please describe how the data can be accessed, including the name of the hosting database (e.g., The European Genome-phenome Archive at the European Bioinformatics Institute) and its accession numbers (e.g., EGAS00000000029), and acknowledge its use in a form agreed by the User Institution with José M. Millán.

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
EGAS50000000476 Whole Genome Sequencing

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
EGAF00008518309 fq.gz 43.2 MB Report
EGAF00008518310 fastq.gz 344.9 MB Report
EGAF00008518311 fastq.gz 787.9 MB Report
EGAF00008518312 fastq.gz 388.5 MB Report
EGAF00008518313 fastq.gz 375.9 MB Report
EGAF00008518314 fastq.gz 431.4 MB Report
EGAF00008518315 fastq.gz 306.7 MB Report
EGAF00008518316 fastq.gz 343.6 MB Report
EGAF00008518317 fastq.gz 346.3 MB Report
EGAF00008518318 fastq.gz 310.4 MB Report
EGAF00008518319 fastq.gz 345.7 MB Report
EGAF00008518320 fastq.gz 249.9 MB Report
EGAF00008518321 fastq.gz 389.3 MB Report
EGAF00008518322 fastq.gz 269.6 MB Report
EGAF00008518323 fastq.gz 261.5 MB Report
EGAF00008518324 fastq.gz 301.0 MB Report
EGAF00008518325 fastq.gz 338.8 MB Report
EGAF00008518326 fastq.gz 370.8 MB Report
EGAF00008518327 fastq.gz 416.3 MB Report
EGAF00008518330 fq.gz 977.7 MB Report
EGAF00008518334 fq.gz 942.4 MB Report
EGAF00008518336 fq.gz 645.8 MB Report
EGAF00008518338 fq.gz 1.2 GB Report
EGAF00008518339 fq.gz 769.5 MB Report
EGAF00008518341 fq.gz 781.9 MB Report
EGAF00008518343 fq.gz 1.2 GB Report
EGAF00008518346 fq.gz 994.2 MB Report
EGAF00008518349 fq.gz 1.0 GB Report
EGAF00008518351 fq.gz 561.8 MB Report
EGAF00008518353 fq.gz 1.0 GB Report
EGAF00008518355 fq.gz 462.7 MB Report
EGAF00008518357 fq.gz 1.1 GB Report
EGAF00008518359 fq.gz 1.2 GB Report
EGAF00008518361 fq.gz 580.2 MB Report
EGAF00008518362 fq.gz 589.1 MB Report
EGAF00008518364 fq.gz 1.4 GB Report
EGAF00008518365 fq.gz 915.1 MB Report
EGAF00008518367 fq.gz 1.4 GB Report
EGAF00008518369 fq.gz 966.6 MB Report
EGAF00008518373 fq.gz 755.0 MB Report
EGAF00008518376 fq.gz 783.3 MB Report
EGAF00008518378 fq.gz 1.0 GB Report
EGAF00008518382 fq.gz 711.6 MB Report
EGAF00008518384 fq.gz 726.2 MB Report
EGAF00008518385 fq.gz 1.2 GB Report
EGAF00008518386 fq.gz 973.1 MB Report
EGAF00008518388 fq.gz 768.3 MB Report
EGAF00008518392 fq.gz 968.7 MB Report
EGAF00008518393 fq.gz 983.9 MB Report
EGAF00008518396 fq.gz 1.0 GB Report
EGAF00008518398 fq.gz 970.8 MB Report
EGAF00008518400 fq.gz 710.4 MB Report
EGAF00008518401 fq.gz 978.8 MB Report
EGAF00008518404 fq.gz 713.5 MB Report
EGAF00008518406 fq.gz 783.6 MB Report
EGAF00008518408 fq.gz 798.2 MB Report
EGAF00008518410 fq.gz 431.1 MB Report
EGAF00008518411 fq.gz 755.3 MB Report
EGAF00008518413 fq.gz 789.8 MB Report
EGAF00008518418 fq.gz 959.5 MB Report
EGAF00008518422 fq.gz 662.6 MB Report
EGAF00008518424 fq.gz 679.9 MB Report
EGAF00008518460 fq.gz 438.2 MB Report
EGAF00008518462 fq.gz 630.1 MB Report
EGAF00008518621 fastq.gz 280.7 MB Report
EGAF00008518622 fq.gz 974.5 MB Report
EGAF00008518627 fq.gz 609.2 MB Report
EGAF00008518811 fastq.gz 348.7 MB Report
EGAF00008518812 fq.gz 1.1 GB Report
EGAF00008518813 fq.gz 690.7 MB Report
EGAF00008518814 fq.gz 687.8 MB Report
EGAF00008519130 fastq.gz 233.1 MB Report
EGAF00008519132 fq.gz 636.0 MB Report
EGAF00008519136 fq.gz 993.4 MB Report
EGAF00008519369 fastq.gz 919.6 MB Report
EGAF00008519370 fastq.gz 309.7 MB Report
EGAF00008519373 fq.gz 442.0 MB Report
EGAF00008520063 fq.gz 921.8 MB Report
EGAF00008520065 fq.gz 929.0 MB Report
EGAF00008520067 fq.gz 947.8 MB Report
EGAF00008520070 fq.gz 1.0 GB Report
EGAF00008520072 fq.gz 982.6 MB Report
EGAF00008520306 fastq.gz 304.5 MB Report
EGAF00008522275 fq.gz 43.1 MB Report
EGAF00008522277 fq.gz 1.2 GB Report
EGAF00008522278 fq.gz 962.5 MB Report
86 Files (61.1 GB)