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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PRPH2-Related Retinal Dystrophies

NGS dataset including patients affected by genomic variants at gene PRPH2. It includes NGS test using custom IRD gene panels, clinical exome sequencing (CES) and whole-exome sequencing (WES).

Request Access

DUO:0000007
version: 2019-01-07

disease specific research

This data use permission indicates that use is allowed provided it is related to the specified disease.

ModifiersMONDO:0019118

DUO:0000018
version: 2019-01-07

not for profit, non commercial use only

This data use modifier indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.

DUO:0000021
version: 2019-01-07

ethics approval required

This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.

DUO:0000024
version: 2019-01-07

publication moratorium

This data use modifier indicates that requestor agrees not to publish results of studies until a specific date.

DUO:0000026
version: 2019-01-07

user specific restriction

This data use modifier indicates that use is limited to use by approved users.

DUO:0000027
version: 2019-01-07

project specific restriction

This data use modifier indicates that use is limited to use within an approved project.

DUO:0000028
version: 2019-01-07

institution specific restriction

This data use modifier indicates that use is limited to use within an approved institution.

DUO:0000029
version: 2019-01-07

return to database or resource

This data use modifier indicates that the requestor must return derived/enriched data to the database/resource.

IIS- Fundacion Jimenez Diaz Data Access Agreement. Please contact any of the members of the IIS- Fundacion Jimenez Diaz DAC to access the whole document.

The IIS-FJD endeavors to ensure that the DATA obtained and to be supplied fulfills all guarantees related to protection, safety, and confidentiality appearing in applicable regulations (Regulation (EU) 2016/679 General Data Protection Regulation, Organic Law 3/2018, on protection of personal information; Law 14/2007, of July 3, on biomedical research; and Law 41/2002, of November 14, regulating patient autonomy and the rights and obligations of information and clinical documentation; as well as regulations governing the implementation of said laws). 1. The User Institution agrees to only use these Data for the purpose of the Project (described in Appendix II) and only for Research Purposes. The User Institution further agrees that it will only use these Data for Research Purposes which are within the limitations (if any) set out in Appendix I. 2. CONFIDENTIALITY: Except where the information is part of the public domain, each party endeavors to preserve the confidentiality of scientific or technical information proprietary to the other party that it may access by virtue of this agreement, except when specifically authorized to do otherwise by the party that owns such information. This obligation shall remain in force regardless of whether the present agreement is in force and as long as the information continues to be confidential. 3. The User Institution agrees to preserve, at all times, the confidentiality of these Data. In particular, it undertakes not to use, or attempt to use these Data to compromise or otherwise infringe the confidentiality of information on Research Participants. Without prejudice to the generality of the foregoing, the User Institution agrees to use at least the measures set out in Appendix I to protect these Data. 4. The User Institution agrees to protect the confidentiality of Research Participants in any research papers or publications that they prepare by taking all reasonable care to limit the possibility of identification. 5. The User Institution agrees not to link or combine these Data to other information or archived data available in a way that could re-identify the Research Participants, even if access to that data has been formally granted to the User Institution or is freely available without restriction. 6. The User Institution agrees only to transfer or disclose these Data, in whole or part, or any material derived from these Data, to the Authorised Personnel (Appendix II). Should the User Institution wish to share these Data with an External Collaborator, the External Collaborator must complete a separate application for access to these Data. 7. The User Institution agrees that the Data Producers, and all other parties involved in the creation, funding or protection of these Data: a) make no warranty or representation, express or implied as to the accuracy, quality or comprehensiveness of these Data; b) exclude to the fullest extent permitted by law all liability for actions, claims, proceedings, demands, losses (including but not limited to loss of profit), costs, awards damages and payments made by the Recipient that may arise (whether directly or indirectly) in any way whatsoever from the Recipient’s use of these Data or from the unavailability of, or break in 2access to, these Data for whatever reason and; c) bear no responsibility for the further analysis or interpretation of these Data. 8. The User Institution agrees to follow the Fort Lauderdale Guidelines (http://www.wellcome.ac.uk/stellent/groups/corporatesite/@policy_communicatio ns/documents/web_document/wtd003207.pdf ) and the Toronto Statement (http://www.nature.com/nature/journal/v461/n7261/full/461168a.html ). This includes but is not limited to recognising the contribution of the Data Producers and including a proper acknowledgement in all reports or publications resulting from the use of these Data. 9. The User Institution agrees to follow the Publication Policy in Appendix III. This includes respecting the moratorium period for the Data Producers to publish the first peer-reviewed report describing and analysing these Data. 10. The User Institution agrees not to make intellectual property claims on these Data and not to use intellectual property protection in ways that would prevent or block access to, or use of, any element of these Data, or conclusion drawn directly from these Data. 11. The User Institution can elect to perform further research that would add intellectual and resource capital to these data and decide to obtain intellectual property rights on these downstream discoveries. In this case, the User Institution agrees to implement licensing policies that will not obstruct further research and to follow the U.S. National Institutes of Health Best Practices for the Licensing of Genomic Inventions (2005) (https://www.icgc.org/files/daco/NIH_BestPracticesLicensingGenomicInventions_2 005_en.pdf ) in conformity with the Organisation for Economic Co-operation and Development Guidelines for the Licensing of the Genetic Inventions (2006) (http://www.oecd.org/science/biotech/36198812.pdf ). 12. The User Institution agrees to destroy/discard the Data held, once it is no longer used for the Project, unless obliged to retain the data for archival purposes in conformity with audit or legal requirements. 13. The User Institution will notify IIS-FJD within 30 days of any changes or departures of Authorised Personnel. 14. The User Institution will notify IIS-FJD prior to any significant changes to the protocol for the Project. 15. The User Institution will notify IIS-FJD as soon as it becomes aware of a breach of the terms or conditions of this agreement. 16. IIS-FJD may terminate this agreement by written notice to the User Institution. If this agreement terminates for any reason, the User Institution will be required to destroy any Data held, including copies and backup copies. This clause does not prevent the User Institution from retaining these data for archival purpose in conformity with audit or legal requirements. 17. The User Institution accepts that it may be necessary for the Data Producers to alter the terms of this agreement from time to time. As an example, this may 3include specific provisions relating to the Data required by Data Producers other than IIS-FJD. In the event that changes are required, the Data Producers or their appointed agent will contact the User Institution to inform it of the changes and the User Institution may elect to accept the changes or terminate the agreement. 18. If requested, the User Institution will allow data security and management documentation to be inspected to verify that it is complying with the terms of this agreement. 19. The User Institution agrees to distribute a copy of these terms to the Authorised Personnel. The User Institution will procure that the Authorised Personnel comply with the terms of this agreement. 20. The user institution agrees to renew the agreement with IIS-FJD every year. 21. The agreement (and any dispute, controversy, proceedings or claim of whatever nature arising out of this agreement or its information) shall be construed, interpreted and governed by the laws of Spain and shall be subject to the exclusive jurisdiction of the Spanish courts.

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
EGAS50000000847 Exome 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
EGAF00008546865 fastq.gz 609.8 MB
EGAF00008546867 fastq.gz 795.6 MB
EGAF00008546869 fastq.gz 899.4 MB
EGAF00008546872 fastq.gz 906.0 MB
EGAF00008546879 fastq.gz 1.1 GB
EGAF00008546881 fastq.gz 1.1 GB
EGAF00008546885 fastq.gz 1.7 GB
EGAF00008546891 fastq.gz 1.8 GB
EGAF00008546894 fastq.gz 1.3 GB
EGAF00008546896 fastq.gz 1.6 GB
EGAF00008546898 fastq.gz 1.3 GB
EGAF00008546900 fastq.gz 637.2 MB
EGAF00008546902 fastq.gz 1.7 GB
EGAF00008546904 fastq.gz 644.9 MB
EGAF00008546906 fastq.gz 1.0 GB
EGAF00008546907 fastq.gz 1.4 GB
EGAF00008546909 fastq.gz 1.0 GB
EGAF00008546910 fastq.gz 1.4 GB
EGAF00008546911 fastq.gz 471.7 MB
EGAF00008546913 fastq.gz 483.7 MB
EGAF00008546915 fastq.gz 1.0 GB
EGAF00008546916 fastq.gz 1.0 GB
EGAF00008546919 fastq.gz 915.4 MB
EGAF00008546921 fastq.gz 931.9 MB
EGAF00008546922 fastq.gz 2.6 GB
EGAF00008546925 fastq.gz 895.0 MB
EGAF00008546926 fastq.gz 903.8 MB
EGAF00008546928 fastq.gz 783.6 MB
EGAF00008546929 fastq.gz 1.1 GB
EGAF00008546931 fastq.gz 799.5 MB
EGAF00008546933 fastq.gz 2.6 GB
EGAF00008546934 fastq.gz 1.2 GB
EGAF00008546935 fastq.gz 829.7 MB
EGAF00008546938 fastq.gz 857.2 MB
EGAF00008546941 fastq.gz 870.7 MB
EGAF00008546942 fastq.gz 724.9 MB
EGAF00008546943 fastq.gz 900.4 MB
EGAF00008546945 fastq.gz 746.3 MB
EGAF00008546948 fastq.gz 760.5 MB
EGAF00008546950 fastq.gz 780.6 MB
EGAF00008546954 fastq.gz 944.0 MB
EGAF00008546956 fastq.gz 710.4 MB
EGAF00008546958 fastq.gz 866.1 MB
EGAF00008546960 fastq.gz 940.9 MB
EGAF00008546962 fastq.gz 882.2 MB
EGAF00008546964 fastq.gz 930.9 MB
EGAF00008546966 fastq.gz 948.9 MB
EGAF00008546968 fastq.gz 578.4 MB
EGAF00008546969 fastq.gz 913.0 MB
EGAF00008546971 fastq.gz 690.3 MB
EGAF00008546973 fastq.gz 571.9 MB
EGAF00008546974 fastq.gz 936.1 MB
EGAF00008546976 fastq.gz 755.9 MB
EGAF00008546979 fastq.gz 759.1 MB
EGAF00008546981 fastq.gz 780.6 MB
EGAF00008546983 fastq.gz 781.8 MB
EGAF00008546986 fastq.gz 562.1 MB
EGAF00008546988 fastq.gz 998.4 MB
EGAF00008546989 fastq.gz 893.8 MB
EGAF00008546992 fastq.gz 900.0 MB
EGAF00008546993 fastq.gz 856.9 MB
EGAF00008546996 fastq.gz 847.0 MB
EGAF00008546997 fastq.gz 785.1 MB
EGAF00008546998 fastq.gz 790.9 MB
EGAF00008547000 fastq.gz 761.9 MB
EGAF00008547003 fastq.gz 762.1 MB
EGAF00008547005 fastq.gz 800.2 MB
EGAF00008547007 fastq.gz 801.7 MB
EGAF00008547009 fastq.gz 787.8 MB
EGAF00008547011 fastq.gz 684.6 MB
EGAF00008547013 fastq.gz 792.2 MB
EGAF00008547015 fastq.gz 686.1 MB
EGAF00008547018 fastq.gz 859.7 MB
EGAF00008547020 fastq.gz 804.7 MB
EGAF00008547021 fastq.gz 799.9 MB
EGAF00008547022 fastq.gz 866.5 MB
EGAF00008547025 fastq.gz 1.1 GB
EGAF00008547027 fastq.gz 1.2 GB
EGAF00008547029 fastq.gz 1.2 GB
EGAF00008547030 fastq.gz 1.0 GB
EGAF00008547033 fastq.gz 807.5 MB
EGAF00008547036 fastq.gz 1.0 GB
EGAF00008547038 fastq.gz 821.0 MB
EGAF00008547041 fastq.gz 890.9 MB
EGAF00008547043 fastq.gz 906.1 MB
EGAF00008547045 fastq.gz 917.6 MB
EGAF00008547047 fastq.gz 862.4 MB
EGAF00008547048 fastq.gz 889.6 MB
EGAF00008547049 fastq.gz 1.2 GB
EGAF00008547051 fastq.gz 887.2 MB
EGAF00008547053 fastq.gz 812.3 MB
EGAF00008547055 fastq.gz 820.4 MB
EGAF00008547057 fastq.gz 780.3 MB
EGAF00008547060 fastq.gz 873.3 MB
EGAF00008547061 fastq.gz 776.2 MB
EGAF00008547063 fastq.gz 734.9 MB
EGAF00008547064 fastq.gz 891.3 MB
EGAF00008547066 fastq.gz 611.7 MB
EGAF00008547067 fastq.gz 753.0 MB
EGAF00008547068 fastq.gz 611.9 MB
EGAF00008547073 fastq.gz 1.1 GB
EGAF00008547076 fastq.gz 824.0 MB
EGAF00008547077 fastq.gz 1.1 GB
EGAF00008547079 fastq.gz 749.6 MB
EGAF00008547081 fastq.gz 733.4 MB
EGAF00008547083 fastq.gz 828.3 MB
EGAF00008547087 fastq.gz 1.1 GB
EGAF00008547089 fastq.gz 1.1 GB
EGAF00008547090 fastq.gz 1.2 GB
EGAF00008547092 fastq.gz 1.1 GB
EGAF00008547093 fastq.gz 903.4 MB
EGAF00008547095 fastq.gz 894.0 MB
EGAF00008547100 fastq.gz 906.1 MB
EGAF00008547101 fastq.gz 927.7 MB
EGAF00008547116 fastq.gz 3.3 GB
EGAF00008547119 fastq.gz 3.2 GB
EGAF00008640414 fastq.gz 905.1 MB
EGAF00008640494 fastq.gz 1.1 GB
EGAF00008640581 fastq.gz 905.5 MB
EGAF00008640613 fastq.gz 1.2 GB
EGAF00008641422 fastq.gz 1.2 GB
121 Files (119.1 GB)