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DNA-seq FASTQ files from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by HPAH

Paired-end DNA-seq FASTQ files from 16 carriers of the BMPR2 p.Arg491Gln mutation in a family affected by hereditary pulmonary arterial hypertension (HPAH). 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 86 FASTQ files.

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This the data access policy for the study of heritable pulmonary arterial hypertension in a large Iberian family.

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 Clínic de Barcelona prior to any significant changes to the protocol for the Project. 14. The User Institution will notify Hospital Clínic de Barcelona as soon as it becomes aware of a breach of the terms or conditions of this agreement. 15. Hospital Clínic 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 Clínic 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
EGAS00001003123 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 Located in
EGAF00003090212 fastq.gz 8.2 GB
EGAF00003090213 fastq.gz 10.3 GB
EGAF00003090214 fastq.gz 5.6 GB
EGAF00003090215 fastq.gz 6.6 GB
EGAF00003090216 fastq.gz 5.7 GB
EGAF00003090217 fastq.gz 6.8 GB
EGAF00003090218 fastq.gz 8.6 GB
EGAF00003090219 fastq.gz 9.9 GB
EGAF00003090220 fastq.gz 8.7 GB
EGAF00003090221 fastq.gz 10.0 GB
EGAF00003090222 fastq.gz 5.2 GB
EGAF00003090223 fastq.gz 5.6 GB
EGAF00003090224 fastq.gz 5.2 GB
EGAF00003090225 fastq.gz 5.6 GB
EGAF00003090226 fastq.gz 5.0 GB
EGAF00003090227 fastq.gz 5.4 GB
EGAF00003090228 fastq.gz 5.0 GB
EGAF00003090229 fastq.gz 5.6 GB
EGAF00003090230 fastq.gz 6.2 GB
EGAF00003090231 fastq.gz 6.7 GB
EGAF00003090232 fastq.gz 6.9 GB
EGAF00003090233 fastq.gz 7.4 GB
EGAF00003090234 fastq.gz 5.0 GB
EGAF00003090235 fastq.gz 5.9 GB
EGAF00003090236 fastq.gz 4.8 GB
EGAF00003090237 fastq.gz 5.9 GB
EGAF00003090238 fastq.gz 7.2 GB
EGAF00003090239 fastq.gz 8.4 GB
EGAF00003090240 fastq.gz 6.2 GB
EGAF00003090241 fastq.gz 7.1 GB
EGAF00003090242 fastq.gz 6.6 GB
EGAF00003090243 fastq.gz 7.7 GB
EGAF00003090244 fastq.gz 5.2 GB
EGAF00003090245 fastq.gz 6.1 GB
EGAF00003090246 fastq.gz 5.2 GB
EGAF00003090247 fastq.gz 6.2 GB
EGAF00003090248 fastq.gz 5.3 GB
EGAF00003090249 fastq.gz 6.3 GB
EGAF00003090250 fastq.gz 5.1 GB
EGAF00003090251 fastq.gz 6.1 GB
EGAF00003090252 fastq.gz 4.2 GB
EGAF00003090253 fastq.gz 5.0 GB
EGAF00003090254 fastq.gz 4.2 GB
EGAF00003090255 fastq.gz 4.8 GB
EGAF00003090256 fastq.gz 4.1 GB
EGAF00003090257 fastq.gz 4.7 GB
EGAF00003090258 fastq.gz 6.0 GB
EGAF00003090259 fastq.gz 7.5 GB
EGAF00003090260 fastq.gz 6.5 GB
EGAF00003090261 fastq.gz 7.8 GB
EGAF00003090262 fastq.gz 6.4 GB
EGAF00003090263 fastq.gz 7.6 GB
EGAF00003090264 fastq.gz 6.3 GB
EGAF00003090265 fastq.gz 7.4 GB
EGAF00003090266 fastq.gz 6.2 GB
EGAF00003090267 fastq.gz 7.2 GB
EGAF00003090268 fastq.gz 5.5 GB
EGAF00003090269 fastq.gz 7.0 GB
EGAF00003090270 fastq.gz 8.0 GB
EGAF00003090271 fastq.gz 9.7 GB
EGAF00003090272 fastq.gz 8.2 GB
EGAF00003090273 fastq.gz 9.9 GB
EGAF00003090274 fastq.gz 5.9 GB
EGAF00003090275 fastq.gz 6.9 GB
EGAF00003090276 fastq.gz 6.0 GB
EGAF00003090277 fastq.gz 7.0 GB
EGAF00003090278 fastq.gz 4.4 GB
EGAF00003090279 fastq.gz 5.2 GB
EGAF00003090280 fastq.gz 4.2 GB
EGAF00003090281 fastq.gz 5.0 GB
EGAF00003090282 fastq.gz 6.6 GB
EGAF00003090283 fastq.gz 8.0 GB
EGAF00003090284 fastq.gz 6.4 GB
EGAF00003090285 fastq.gz 7.5 GB
EGAF00003090286 fastq.gz 6.5 GB
EGAF00003090287 fastq.gz 7.6 GB
EGAF00003090288 fastq.gz 6.7 GB
EGAF00003090289 fastq.gz 7.7 GB
EGAF00003090290 fastq.gz 8.2 GB
EGAF00003090291 fastq.gz 9.8 GB
EGAF00003090292 fastq.gz 8.0 GB
EGAF00003090293 fastq.gz 9.7 GB
EGAF00003090294 fastq.gz 3.9 GB
EGAF00003090295 fastq.gz 4.7 GB
EGAF00003090296 fastq.gz 5.2 GB
EGAF00003090297 fastq.gz 6.1 GB
EGAF00003090298 fastq.gz 5.3 GB
EGAF00003090299 fastq.gz 6.2 GB
EGAF00003090300 fastq.gz 3.8 GB
EGAF00003090301 fastq.gz 4.4 GB
EGAF00003090302 fastq.gz 8.4 GB
EGAF00003090303 fastq.gz 9.8 GB
EGAF00003090304 fastq.gz 5.7 GB
EGAF00003090305 fastq.gz 6.7 GB
EGAF00003090306 fastq.gz 5.9 GB
EGAF00003090307 fastq.gz 6.9 GB
EGAF00003090308 fastq.gz 6.0 GB
EGAF00003090309 fastq.gz 6.7 GB
EGAF00003090310 fastq.gz 7.1 GB
EGAF00003090311 fastq.gz 7.8 GB
EGAF00003090312 fastq.gz 7.9 GB
EGAF00003090313 fastq.gz 9.8 GB
EGAF00003090314 fastq.gz 5.2 GB
EGAF00003090315 fastq.gz 6.2 GB
EGAF00003090316 fastq.gz 5.2 GB
EGAF00003090317 fastq.gz 6.1 GB
EGAF00003090318 fastq.gz 10.5 GB
EGAF00003090319 fastq.gz 12.6 GB
EGAF00003090320 fastq.gz 10.8 GB
EGAF00003090321 fastq.gz 12.9 GB
EGAF00003090322 fastq.gz 10.2 GB
EGAF00003090323 fastq.gz 12.9 GB
EGAF00003090324 fastq.gz 7.1 GB
EGAF00003090325 fastq.gz 8.5 GB
EGAF00003090326 fastq.gz 7.0 GB
EGAF00003090327 fastq.gz 8.5 GB
EGAF00003090328 fastq.gz 6.6 GB
EGAF00003090329 fastq.gz 8.0 GB
EGAF00003090330 fastq.gz 6.2 GB
EGAF00003090331 fastq.gz 7.3 GB
EGAF00003090332 fastq.gz 6.3 GB
EGAF00003090333 fastq.gz 7.4 GB
EGAF00003090334 fastq.gz 6.4 GB
EGAF00003090335 fastq.gz 7.6 GB
EGAF00003090336 fastq.gz 6.1 GB
EGAF00003090337 fastq.gz 7.3 GB
EGAF00003090338 fastq.gz 2.8 GB
EGAF00003090339 fastq.gz 3.4 GB
EGAF00003090340 fastq.gz 2.9 GB
EGAF00003090341 fastq.gz 3.3 GB
EGAF00003090342 fastq.gz 2.9 GB
EGAF00003090343 fastq.gz 3.2 GB
EGAF00003090344 fastq.gz 5.4 GB
EGAF00003090345 fastq.gz 6.4 GB
EGAF00003090346 fastq.gz 5.7 GB
EGAF00003090347 fastq.gz 7.0 GB
EGAF00003090348 fastq.gz 8.1 GB
EGAF00003090349 fastq.gz 9.6 GB
EGAF00003090350 fastq.gz 7.7 GB
EGAF00003090351 fastq.gz 9.2 GB
EGAF00003090352 fastq.gz 7.4 GB
EGAF00003090353 fastq.gz 8.8 GB
EGAF00003090354 fastq.gz 10.5 GB
EGAF00003090355 fastq.gz 13.2 GB
EGAF00003090356 fastq.gz 6.7 GB
EGAF00003090357 fastq.gz 8.1 GB
EGAF00003090358 fastq.gz 6.7 GB
EGAF00003090359 fastq.gz 8.0 GB
EGAF00003090360 fastq.gz 6.3 GB
EGAF00003090361 fastq.gz 7.6 GB
EGAF00003090362 fastq.gz 1.5 GB
EGAF00003090363 fastq.gz 1.8 GB
EGAF00003090364 fastq.gz 6.2 GB
EGAF00003090365 fastq.gz 7.8 GB
EGAF00003090366 fastq.gz 6.5 GB
EGAF00003090367 fastq.gz 7.9 GB
EGAF00003090368 fastq.gz 6.6 GB
EGAF00003090369 fastq.gz 8.0 GB
EGAF00003090370 fastq.gz 6.2 GB
EGAF00003090371 fastq.gz 7.6 GB
EGAF00003090372 fastq.gz 6.6 GB
EGAF00003090373 fastq.gz 7.9 GB
EGAF00003090374 fastq.gz 4.3 GB
EGAF00003090375 fastq.gz 5.3 GB
EGAF00003090376 fastq.gz 10.9 GB
EGAF00003090377 fastq.gz 13.0 GB
EGAF00003090378 fastq.gz 10.8 GB
EGAF00003090379 fastq.gz 12.7 GB
EGAF00003090380 fastq.gz 5.5 GB
EGAF00003090381 fastq.gz 6.6 GB
EGAF00003090382 fastq.gz 5.7 GB
EGAF00003090383 fastq.gz 6.8 GB
172 Files (1.2 TB)