DNA-seq FASTQ files from 16 patients affected by acute intermittent porphyria

Paired-end DNA-seq FASTQ files from 16 patients affected by acute intermittent porphyria. Whole genome sequencing of these samples was performed in an Illumina HiSeq 4000 instrument. Libraries were prepared using the Fisher PE Kit (Kapa Biosystems). Each sample was multiplexed across flowcells and lanes, leading to a total number of 83 pairs of FASTQ files.

16 samples
DAC: EGAC00001001940
Technology: Illumina HiSeq 4000

Access Policy1 Study Files

Metadata

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This the data access policy for the study of acute intermittent porphyria in a cohort of the Hospital Clínic de Barcelona.

DATA ACCESS AGREEMENT These terms and conditions govern access to the managed access datasets (details of which are set out in Appendix I) to which the User Institution has requested access. The User Institution agrees to be bound by these terms and conditions. Definitions Authorised Personnel: The individuals at the User Institution to whom Hospital Clínic de Barcelona grants access to the Data. This includes the User, the individuals listed in Appendix II and any other individuals for whom the User Institution subsequently requests access to the Data. Details of the initial Authorised Personnel are set out in Appendix II. Data: The managed access datasets to which the User Institution has requested access. Data Producers: Hospital Clínic de Barcelona and the collaborators listed in Appendix I responsible for the development, organisation, and oversight of these Data. External Collaborator: A collaborator of the User, working for an institution other than the User Institution. Project: The project for which the User Institution has requested access to these Data. A description of the Project is set out in Appendix II. Publications: Includes, without limitation, articles published in print journals, electronic journals, reviews, books, posters and other written and verbal presentations of research. Research Participant: An individual whose data form part of these Data. Research Purposes: Shall mean research that is seeking to advance the understanding of genetics and genomics, including the treatment of disorders, and work on statistical methods that may be applied to such research. User: The principal investigator for the Project. User Institution(s): The Institution that has requested access to the Data. Hospital Clínic de Barcelona: Hospital Clínic de Barcelona is a university hospital founded in 1906 that belongs to the Catalan Public Hospital Network (XHUP). Contact details: Villarroel, 170, E-08036 Barcelona, Spain. 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. 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. 3. 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. 4. 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. 5. 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. 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. 6. 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 access to, these Data for whatever reason and; c) bear no responsibility for the further analysis or interpretation of these Data. 7. The User Institution agrees to follow the Fort Lauderdale Guidelines (http://www.wellcome.ac.uk/stellent/groups/corporatesite/@policy_communications/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. 8. 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. 9. 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. 10. 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_2005_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 ). 11. 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. 12. The User Institution will notify Hospital Clínic de Barcelona within 30 days of any changes or departures of Authorised Personnel. 13. The User Institution will notify Hospital Clinic de Barcelona prior to any significant changes to the protocol for the Project. 14. The User Institution will notify Hospital Clinic de Barcelona as soon as it becomes aware of a breach of the terms or conditions of this agreement. 15. Hospital Clinic de Barcelona 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. 16. 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 include specific provisions relating to the Data required by Data Producers other than Hospital Clinic de Barcelona. 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. 17. 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. 18. 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. 19. This agreement (and any dispute, controversy, proceedings or claim of whatever nature arising out of this agreement or its formation) shall be construed, interpreted and governed by the laws of Spain and Catalonia 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
EGAS00001004999	Whole genome sequencing of patients affected by acute intermittent porphyria	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
EGAF00004981356	fastq.gz	5.9 GB
EGAF00004981357	fastq.gz	6.9 GB
EGAF00004981358	fastq.gz	4.3 GB
EGAF00004981359	fastq.gz	4.9 GB
EGAF00004981360	fastq.gz	7.6 GB
EGAF00004981361	fastq.gz	8.9 GB
EGAF00004981362	fastq.gz	7.7 GB
EGAF00004981363	fastq.gz	9.2 GB
EGAF00004981364	fastq.gz	6.2 GB
EGAF00004981365	fastq.gz	7.4 GB
EGAF00004981366	fastq.gz	6.8 GB
EGAF00004981367	fastq.gz	8.0 GB
EGAF00004981368	fastq.gz	6.1 GB
EGAF00004981369	fastq.gz	7.2 GB
EGAF00004981370	fastq.gz	7.0 GB
EGAF00004981371	fastq.gz	8.1 GB
EGAF00004981372	fastq.gz	6.9 GB
EGAF00004981373	fastq.gz	8.3 GB
EGAF00004981374	fastq.gz	6.0 GB
EGAF00004981375	fastq.gz	7.0 GB
EGAF00004981376	fastq.gz	5.7 GB
EGAF00004981377	fastq.gz	6.8 GB
EGAF00004981378	fastq.gz	4.7 GB
EGAF00004981379	fastq.gz	5.4 GB
EGAF00004981380	fastq.gz	7.5 GB
EGAF00004981381	fastq.gz	9.1 GB
EGAF00004981382	fastq.gz	4.0 GB
EGAF00004981383	fastq.gz	4.5 GB
EGAF00004981384	fastq.gz	6.4 GB
EGAF00004981385	fastq.gz	7.4 GB
EGAF00004981386	fastq.gz	6.5 GB
EGAF00004981387	fastq.gz	7.6 GB
EGAF00004981388	fastq.gz	6.0 GB
EGAF00004981389	fastq.gz	6.9 GB
EGAF00004981390	fastq.gz	7.1 GB
EGAF00004981391	fastq.gz	8.6 GB
EGAF00004981392	fastq.gz	9.3 GB
EGAF00004981393	fastq.gz	11.3 GB
EGAF00004981394	fastq.gz	4.4 GB
EGAF00004981395	fastq.gz	5.5 GB
EGAF00004981396	fastq.gz	6.2 GB
EGAF00004981397	fastq.gz	7.3 GB
EGAF00004981398	fastq.gz	6.0 GB
EGAF00004981399	fastq.gz	7.2 GB
EGAF00004981400	fastq.gz	5.4 GB
EGAF00004981401	fastq.gz	6.4 GB
EGAF00004981402	fastq.gz	7.8 GB
EGAF00004981403	fastq.gz	9.3 GB
EGAF00004981404	fastq.gz	5.5 GB
EGAF00004981405	fastq.gz	6.5 GB
EGAF00004981406	fastq.gz	7.8 GB
EGAF00004981407	fastq.gz	9.2 GB
EGAF00004981408	fastq.gz	6.9 GB
EGAF00004981409	fastq.gz	8.4 GB
EGAF00004981410	fastq.gz	5.6 GB
EGAF00004981411	fastq.gz	6.7 GB
EGAF00004981412	fastq.gz	7.8 GB
EGAF00004981413	fastq.gz	9.7 GB
EGAF00004981414	fastq.gz	5.5 GB
EGAF00004981415	fastq.gz	6.6 GB
EGAF00004981416	fastq.gz	6.3 GB
EGAF00004981417	fastq.gz	7.9 GB
EGAF00004981418	fastq.gz	7.2 GB
EGAF00004981419	fastq.gz	8.6 GB
EGAF00004981420	fastq.gz	7.5 GB
EGAF00004981421	fastq.gz	8.8 GB
EGAF00004981422	fastq.gz	6.5 GB
EGAF00004981423	fastq.gz	7.7 GB
EGAF00004981424	fastq.gz	4.0 GB
EGAF00004981425	fastq.gz	4.5 GB
EGAF00004981426	fastq.gz	5.9 GB
EGAF00004981427	fastq.gz	7.1 GB
EGAF00004981428	fastq.gz	5.9 GB
EGAF00004981429	fastq.gz	7.5 GB
EGAF00004981430	fastq.gz	5.8 GB
EGAF00004981431	fastq.gz	6.8 GB
EGAF00004981432	fastq.gz	6.0 GB
EGAF00004981433	fastq.gz	7.4 GB
EGAF00004981434	fastq.gz	8.2 GB
EGAF00004981435	fastq.gz	9.5 GB
EGAF00004981436	fastq.gz	5.0 GB
EGAF00004981437	fastq.gz	5.8 GB
EGAF00004981438	fastq.gz	7.4 GB
EGAF00004981439	fastq.gz	8.6 GB
EGAF00004981440	fastq.gz	9.8 GB
EGAF00004981441	fastq.gz	11.2 GB
EGAF00004981442	fastq.gz	7.8 GB
EGAF00004981443	fastq.gz	9.1 GB
EGAF00004981444	fastq.gz	6.4 GB
EGAF00004981445	fastq.gz	7.4 GB
EGAF00004981446	fastq.gz	5.3 GB
EGAF00004981447	fastq.gz	6.3 GB
EGAF00004981448	fastq.gz	5.5 GB
EGAF00004981449	fastq.gz	6.5 GB
EGAF00004981450	fastq.gz	6.0 GB
EGAF00004981451	fastq.gz	6.9 GB
EGAF00004981452	fastq.gz	7.4 GB
EGAF00004981453	fastq.gz	8.6 GB
EGAF00004981454	fastq.gz	8.5 GB
EGAF00004981455	fastq.gz	10.5 GB
EGAF00004981456	fastq.gz	5.7 GB
EGAF00004981457	fastq.gz	6.5 GB
EGAF00004981458	fastq.gz	4.3 GB
EGAF00004981459	fastq.gz	5.0 GB
EGAF00004981460	fastq.gz	5.4 GB
EGAF00004981461	fastq.gz	6.6 GB
EGAF00004981462	fastq.gz	7.1 GB
EGAF00004981463	fastq.gz	8.5 GB
EGAF00004981464	fastq.gz	6.5 GB
EGAF00004981465	fastq.gz	7.4 GB
EGAF00004981466	fastq.gz	9.6 GB
EGAF00004981467	fastq.gz	11.0 GB
EGAF00004981468	fastq.gz	6.8 GB
EGAF00004981469	fastq.gz	8.1 GB
EGAF00004981470	fastq.gz	5.6 GB
EGAF00004981471	fastq.gz	6.6 GB
EGAF00004981472	fastq.gz	5.2 GB
EGAF00004981473	fastq.gz	6.2 GB
EGAF00004981474	fastq.gz	6.9 GB
EGAF00004981475	fastq.gz	8.2 GB
EGAF00004981476	fastq.gz	8.0 GB
EGAF00004981477	fastq.gz	9.5 GB
EGAF00004981478	fastq.gz	5.7 GB
EGAF00004981479	fastq.gz	6.9 GB
EGAF00004981480	fastq.gz	5.6 GB
EGAF00004981481	fastq.gz	6.7 GB
EGAF00004981482	fastq.gz	5.9 GB
EGAF00004981483	fastq.gz	7.2 GB
EGAF00004981484	fastq.gz	6.0 GB
EGAF00004981485	fastq.gz	7.3 GB
EGAF00004981486	fastq.gz	6.0 GB
EGAF00004981487	fastq.gz	7.3 GB
EGAF00004981488	fastq.gz	6.0 GB
EGAF00004981489	fastq.gz	7.2 GB
EGAF00004981490	fastq.gz	6.2 GB
EGAF00004981491	fastq.gz	7.5 GB
EGAF00004981492	fastq.gz	7.6 GB
EGAF00004981493	fastq.gz	9.1 GB
EGAF00004981494	fastq.gz	8.3 GB
EGAF00004981495	fastq.gz	9.6 GB
EGAF00004981496	fastq.gz	4.7 GB
EGAF00004981497	fastq.gz	5.5 GB
EGAF00004981498	fastq.gz	7.6 GB
EGAF00004981499	fastq.gz	9.0 GB
EGAF00004981500	fastq.gz	9.2 GB
EGAF00004981501	fastq.gz	11.4 GB
EGAF00004981502	fastq.gz	6.6 GB
EGAF00004981503	fastq.gz	7.7 GB
EGAF00004981504	fastq.gz	6.3 GB
EGAF00004981505	fastq.gz	7.2 GB
EGAF00004981506	fastq.gz	6.1 GB
EGAF00004981507	fastq.gz	7.2 GB
EGAF00004981508	fastq.gz	7.9 GB
EGAF00004981509	fastq.gz	9.3 GB
EGAF00004981510	fastq.gz	5.1 GB
EGAF00004981511	fastq.gz	6.2 GB
EGAF00004981512	fastq.gz	7.9 GB
EGAF00004981513	fastq.gz	9.4 GB
EGAF00004981514	fastq.gz	6.8 GB
EGAF00004981515	fastq.gz	7.9 GB
EGAF00004981516	fastq.gz	8.2 GB
EGAF00004981517	fastq.gz	9.4 GB
EGAF00004981518	fastq.gz	4.3 GB
EGAF00004981519	fastq.gz	5.2 GB
EGAF00004981520	fastq.gz	4.9 GB
EGAF00004981521	fastq.gz	5.6 GB
166 Files (1.2 TB)