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Next generation sequencing on cardiac samples in Hungarian patients of dilated cardiomyopathy

Heterozygous (HET) truncating mutations in the TTN gene (TTNtv) encoding the giant titin protein are the most common genetic cause of dilated cardiomyopathy (DCM). We investigated 127 clinically identified DCM human cardiac samples with targeted sequencing using the TruSight Cardio panel on an Illumina MiSeq system with a special focus on TTNtvs. This dataset belongs to the publication of Kellermayer, D et al. Truncated titin is integrated into the human dilated cardiomyopathic sarcomere

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Semmelweis University - Biophysics Data Access Policy

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 Department of Biophysics and Radiation Biology, Semmelweis University 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: Department of Biophysics and Radiation Biology, Semmelweis University 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. Department of Biophysics and Radiation Biology, Semmelweis University: The Institution that produced the Data, located in Budapest, Hungary. 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 Department of Biophysics and Radiation Biology, Semmelweis University within 30 days of any changes or departures of Authorised Personnel. 13. The User Institution will notify Department of Biophysics and Radiation Biology, Semmelweis University prior to any significant changes to the protocol for the Project. 14. The User Institution will notify Department of Biophysics and Radiation Biology, Semmelweis University as soon as it becomes aware of a breach of the terms or conditions of this agreement. 15. Department of Biophysics and Radiation Biology, Semmelweis University 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 Department of Biophysics and Radiation Biology, Semmelweis University. 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.   Agreed for User Institution Signature: Name: Title: Date: Principal Investigator I confirm that I have read and understood this Agreement. Signature: Name: Title: Date: Agreed for Department of Biophysics and Radiation Biology, Semmelweis University Signature: Name: Miklós Kellermayer Title: Professor (MD, PhD, DSc) Date: APPENDIX I – DATASET DETAILS APPENDIX II ––PROJECT DETAILS APPENDIX III –– PUBLICATION POLICY APPENDIX I – DATASET DETAILS (to be completed by the data producer before passing to applicant) Dataset reference (EGA Study ID and Dataset Details) Name of project that created the dataset Next generation sequencing on cardiac samples in Hungarian patients of dilated cardiomyopathy Names of other data producers/collaborators Gábor Bedics (+36 1 317 1074, bedics.gabor@med.semmelweis-univ.hu, Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary) Csaba Bödör (+36 1 317 1074, bodor.csaba1@semmelweis.hu, Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary) Tamás Radovits (+36 20 825 8895, radovitstamas@yahoo.com, Heart and Vascular Center, Semmelweis University, Budapest, Hungary) Hedvig Tordai (+36 20 446 5229, tordaih@hegelab.org, Department of Biophysics and Radiation Biology, Semmelweis University, Budapest, Hungary) Miklós Kellermayer, Principal Investigator (+36 20 825 9994, kellermayer.miklos@semmelweis.hu, Department of Biophysics and Radiation Biology, Semmelweis University, Budapest, Hungary) Specific limitations on areas of research Health or medical or biomedical research Non-commercial use only. Use is limited to use within an approved institution, by approved users, within an approved project. Minimum protection measures required File access: Data can be held in unencrypted files on an institutional compute system, with Unix user group read/write access for one or more appropriate groups but not Unix world read/write access behind a secure firewall. Laptops holding these data should have password protected logins and screenlocks (set to lock after 5 min of inactivity). If held on USB keys or other portable hard drives, the data must be encrypted. APPENDIX II – PROJECT DETAILS (to be completed by the Requestor) Details of dataset requested i.e., EGA Study and Dataset Accession Number Brief abstract of the Project in which the Data will be used (500 words max) All Individuals who the User Institution to be named as registered users Name of Registered User Email Job Title Supervisor* All Individuals that should have an account created at the EGA Name of Registered User Email Job Title APPENDIX III – PUBLICATION POLICY Department of Biophysics and Radiation Biology, Semmelweis University 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. Department of Biophysics and Radiation Biology, Semmelweis University 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 12 months after these data were first made available on the relevant hosting database, unless Department of Biophysics and Radiation Biology, Semmelweis University 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), cite the paper in which the Data was published by the Data Producers, and acknowledge its use in a form agreed by the User Institution with the Department of Biophysics and Radiation Biology, Semmelweis University

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
EGAS50000000049 Resequencing

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
EGAF50000051133 fastq.gz 66.8 MB
EGAF50000051134 fastq.gz 67.9 MB
EGAF50000051135 fastq.gz 121.1 MB
EGAF50000051136 fastq.gz 121.5 MB
EGAF50000051137 fastq.gz 62.3 MB
EGAF50000051138 fastq.gz 64.0 MB
EGAF50000051139 fastq.gz 73.7 MB
EGAF50000051140 fastq.gz 76.1 MB
EGAF50000051141 fastq.gz 176.3 MB
EGAF50000051142 fastq.gz 71.5 MB
EGAF50000051143 fastq.gz 72.5 MB
EGAF50000051144 fastq.gz 50.0 MB
EGAF50000051145 fastq.gz 51.0 MB
EGAF50000051146 fastq.gz 27.2 MB
EGAF50000051147 fastq.gz 27.5 MB
EGAF50000051148 fastq.gz 52.4 MB
EGAF50000051149 fastq.gz 54.8 MB
EGAF50000051150 fastq.gz 81.2 MB
EGAF50000051151 fastq.gz 82.5 MB
EGAF50000051152 fastq.gz 54.2 MB
EGAF50000051153 fastq.gz 55.1 MB
EGAF50000051154 fastq.gz 127.4 MB
EGAF50000051155 fastq.gz 32.1 MB
EGAF50000051156 fastq.gz 130.1 MB
EGAF50000051157 fastq.gz 32.0 MB
EGAF50000051158 fastq.gz 122.5 MB
EGAF50000051159 fastq.gz 126.7 MB
EGAF50000051160 fastq.gz 114.0 MB
EGAF50000051161 fastq.gz 116.5 MB
EGAF50000051162 fastq.gz 73.3 MB
EGAF50000051163 fastq.gz 75.1 MB
EGAF50000051164 fastq.gz 74.2 MB
EGAF50000051165 fastq.gz 76.4 MB
EGAF50000051166 fastq.gz 178.0 MB
EGAF50000051167 fastq.gz 57.0 MB
EGAF50000051168 fastq.gz 184.4 MB
EGAF50000051169 fastq.gz 58.9 MB
EGAF50000051170 fastq.gz 107.9 MB
EGAF50000051171 fastq.gz 109.8 MB
EGAF50000051172 fastq.gz 124.8 MB
EGAF50000051173 fastq.gz 127.7 MB
EGAF50000051174 fastq.gz 216.9 MB
EGAF50000051175 fastq.gz 222.2 MB
EGAF50000051176 fastq.gz 147.4 MB
EGAF50000051177 fastq.gz 153.1 MB
EGAF50000051178 fastq.gz 69.2 MB
EGAF50000051179 fastq.gz 73.5 MB
EGAF50000051180 fastq.gz 90.5 MB
EGAF50000051181 fastq.gz 89.7 MB
EGAF50000051182 fastq.gz 173.6 MB
EGAF50000051183 fastq.gz 27.7 MB
EGAF50000051184 fastq.gz 27.9 MB
EGAF50000051185 fastq.gz 176.7 MB
EGAF50000051186 fastq.gz 259.8 MB
EGAF50000051187 fastq.gz 259.6 MB
EGAF50000051188 fastq.gz 117.3 MB
EGAF50000051189 fastq.gz 120.8 MB
EGAF50000051190 fastq.gz 158.9 MB
EGAF50000051191 fastq.gz 171.7 MB
EGAF50000051192 fastq.gz 112.0 MB
EGAF50000051193 fastq.gz 112.5 MB
EGAF50000051194 fastq.gz 117.0 MB
EGAF50000051195 fastq.gz 21.5 MB
EGAF50000051196 fastq.gz 21.8 MB
EGAF50000051197 fastq.gz 122.6 MB
EGAF50000051198 fastq.gz 75.5 MB
EGAF50000051199 fastq.gz 78.7 MB
EGAF50000051200 fastq.gz 76.8 MB
EGAF50000051201 fastq.gz 78.8 MB
EGAF50000051202 fastq.gz 118.0 MB
EGAF50000051203 fastq.gz 119.7 MB
EGAF50000051204 fastq.gz 139.9 MB
EGAF50000051205 fastq.gz 143.7 MB
EGAF50000051206 fastq.gz 165.2 MB
EGAF50000051207 fastq.gz 184.8 MB
EGAF50000051208 fastq.gz 107.2 MB
EGAF50000051209 fastq.gz 120.3 MB
EGAF50000051210 fastq.gz 124.4 MB
EGAF50000051211 fastq.gz 44.1 MB
EGAF50000051212 fastq.gz 130.6 MB
EGAF50000051213 fastq.gz 43.8 MB
EGAF50000051214 fastq.gz 73.4 MB
EGAF50000051215 fastq.gz 75.1 MB
EGAF50000051216 fastq.gz 95.7 MB
EGAF50000051217 fastq.gz 104.4 MB
EGAF50000051218 fastq.gz 112.3 MB
EGAF50000051219 fastq.gz 131.0 MB
EGAF50000051220 fastq.gz 90.2 MB
EGAF50000051221 fastq.gz 100.1 MB
EGAF50000051222 fastq.gz 96.5 MB
EGAF50000051223 fastq.gz 113.7 MB
EGAF50000051224 fastq.gz 56.8 MB
EGAF50000051225 fastq.gz 58.7 MB
EGAF50000051226 fastq.gz 230.7 MB
EGAF50000051227 fastq.gz 244.5 MB
EGAF50000051228 fastq.gz 114.8 MB
EGAF50000051229 fastq.gz 126.4 MB
EGAF50000051230 fastq.gz 95.6 MB
EGAF50000051231 fastq.gz 105.6 MB
EGAF50000051232 fastq.gz 89.0 MB
EGAF50000051233 fastq.gz 89.3 MB
EGAF50000051234 fastq.gz 88.7 MB
EGAF50000051235 fastq.gz 92.3 MB
EGAF50000051236 fastq.gz 135.3 MB
EGAF50000051237 fastq.gz 135.8 MB
EGAF50000051238 fastq.gz 90.3 MB
EGAF50000051239 fastq.gz 97.3 MB
EGAF50000051240 fastq.gz 139.6 MB
EGAF50000051241 fastq.gz 155.5 MB
EGAF50000051242 fastq.gz 148.3 MB
EGAF50000051243 fastq.gz 161.1 MB
EGAF50000051244 fastq.gz 90.6 MB
EGAF50000051245 fastq.gz 92.6 MB
EGAF50000051246 fastq.gz 66.5 MB
EGAF50000051247 fastq.gz 73.4 MB
EGAF50000051248 fastq.gz 48.9 MB
EGAF50000051249 fastq.gz 53.6 MB
EGAF50000051250 fastq.gz 132.2 MB
EGAF50000051251 fastq.gz 144.0 MB
EGAF50000051252 fastq.gz 149.9 MB
EGAF50000051253 fastq.gz 169.0 MB
EGAF50000051254 fastq.gz 82.0 MB
EGAF50000051255 fastq.gz 84.0 MB
EGAF50000051256 fastq.gz 98.9 MB
EGAF50000051257 fastq.gz 109.2 MB
EGAF50000051258 fastq.gz 94.7 MB
EGAF50000051259 fastq.gz 17.7 MB
EGAF50000051260 fastq.gz 18.8 MB
EGAF50000051261 fastq.gz 104.2 MB
EGAF50000051262 fastq.gz 76.5 MB
EGAF50000051263 fastq.gz 79.7 MB
EGAF50000051264 fastq.gz 68.3 MB
EGAF50000051265 fastq.gz 72.3 MB
EGAF50000051266 fastq.gz 88.7 MB
EGAF50000051267 fastq.gz 96.8 MB
EGAF50000051268 fastq.gz 70.4 MB
EGAF50000051269 fastq.gz 74.8 MB
EGAF50000051270 fastq.gz 64.3 MB
EGAF50000051271 fastq.gz 65.8 MB
EGAF50000051272 fastq.gz 62.9 MB
EGAF50000051273 fastq.gz 64.1 MB
EGAF50000051274 fastq.gz 80.2 MB
EGAF50000051275 fastq.gz 80.6 MB
EGAF50000051276 fastq.gz 68.7 MB
EGAF50000051277 fastq.gz 71.2 MB
EGAF50000051278 fastq.gz 56.9 MB
EGAF50000051279 fastq.gz 57.8 MB
EGAF50000051280 fastq.gz 82.7 MB
EGAF50000051281 fastq.gz 84.2 MB
EGAF50000051282 fastq.gz 72.2 MB
EGAF50000051283 fastq.gz 75.2 MB
EGAF50000051284 fastq.gz 72.8 MB
EGAF50000051285 fastq.gz 73.8 MB
EGAF50000051286 fastq.gz 66.5 MB
EGAF50000051287 fastq.gz 69.6 MB
EGAF50000051288 fastq.gz 49.1 MB
EGAF50000051289 fastq.gz 49.9 MB
EGAF50000051290 fastq.gz 123.5 MB
EGAF50000051291 fastq.gz 123.0 MB
EGAF50000051292 fastq.gz 64.2 MB
EGAF50000051293 fastq.gz 66.2 MB
EGAF50000051294 fastq.gz 163.8 MB
EGAF50000051295 fastq.gz 171.3 MB
EGAF50000051296 fastq.gz 156.3 MB
EGAF50000051297 fastq.gz 163.2 MB
EGAF50000051298 fastq.gz 168.1 MB
EGAF50000051299 fastq.gz 172.7 MB
EGAF50000051300 fastq.gz 123.3 MB
EGAF50000051301 fastq.gz 127.0 MB
EGAF50000051302 fastq.gz 101.5 MB
EGAF50000051303 fastq.gz 14.2 MB
EGAF50000051304 fastq.gz 14.4 MB
EGAF50000051305 fastq.gz 101.7 MB
EGAF50000051306 fastq.gz 46.5 MB
EGAF50000051307 fastq.gz 48.8 MB
EGAF50000051308 fastq.gz 16.3 MB
EGAF50000051309 fastq.gz 16.1 MB
EGAF50000051310 fastq.gz 79.2 MB
EGAF50000051311 fastq.gz 78.9 MB
EGAF50000051312 fastq.gz 106.3 MB
EGAF50000051313 fastq.gz 106.1 MB
EGAF50000051314 fastq.gz 130.2 MB
EGAF50000051315 fastq.gz 126.8 MB
EGAF50000051316 fastq.gz 139.3 MB
EGAF50000051317 fastq.gz 141.5 MB
EGAF50000051318 fastq.gz 178.9 MB
EGAF50000051319 fastq.gz 182.4 MB
EGAF50000051320 fastq.gz 167.4 MB
EGAF50000051321 fastq.gz 170.6 MB
EGAF50000051322 fastq.gz 147.3 MB
EGAF50000051323 fastq.gz 147.0 MB
EGAF50000051324 fastq.gz 99.0 MB
EGAF50000051325 fastq.gz 99.7 MB
EGAF50000051326 fastq.gz 148.1 MB
EGAF50000051327 fastq.gz 149.4 MB
EGAF50000051328 fastq.gz 79.4 MB
EGAF50000051329 fastq.gz 81.2 MB
EGAF50000051330 fastq.gz 123.5 MB
EGAF50000051331 fastq.gz 21.4 MB
EGAF50000051332 fastq.gz 20.8 MB
EGAF50000051333 fastq.gz 129.8 MB
EGAF50000051334 fastq.gz 65.8 MB
EGAF50000051335 fastq.gz 24.1 MB
EGAF50000051336 fastq.gz 65.8 MB
EGAF50000051337 fastq.gz 24.1 MB
EGAF50000051338 fastq.gz 171.4 MB
EGAF50000051339 fastq.gz 168.4 MB
EGAF50000051340 fastq.gz 139.7 MB
EGAF50000051341 fastq.gz 143.0 MB
EGAF50000051342 fastq.gz 151.7 MB
EGAF50000051343 fastq.gz 155.1 MB
EGAF50000051344 fastq.gz 97.4 MB
EGAF50000051345 fastq.gz 99.3 MB
EGAF50000051346 fastq.gz 45.0 MB
EGAF50000051347 fastq.gz 46.2 MB
EGAF50000051348 fastq.gz 70.0 MB
EGAF50000051349 fastq.gz 29.9 MB
EGAF50000051350 fastq.gz 73.3 MB
EGAF50000051351 fastq.gz 30.1 MB
EGAF50000051352 fastq.gz 149.3 MB
EGAF50000051353 fastq.gz 153.0 MB
EGAF50000051354 fastq.gz 134.0 MB
EGAF50000051355 fastq.gz 56.9 MB
EGAF50000051356 fastq.gz 147.0 MB
EGAF50000051357 fastq.gz 58.7 MB
EGAF50000051358 fastq.gz 278.2 MB
EGAF50000051359 fastq.gz 294.8 MB
EGAF50000051360 fastq.gz 139.6 MB
EGAF50000051361 fastq.gz 49.6 MB
EGAF50000051362 fastq.gz 145.6 MB
EGAF50000051363 fastq.gz 52.1 MB
EGAF50000051364 fastq.gz 51.9 MB
EGAF50000051365 fastq.gz 54.0 MB
EGAF50000051366 fastq.gz 63.1 MB
EGAF50000051367 fastq.gz 64.8 MB
EGAF50000051368 fastq.gz 170.1 MB
EGAF50000051369 fastq.gz 180.2 MB
EGAF50000051370 fastq.gz 151.8 MB
EGAF50000051371 fastq.gz 156.5 MB
EGAF50000051372 fastq.gz 211.5 MB
EGAF50000051373 fastq.gz 227.9 MB
EGAF50000051374 fastq.gz 229.2 MB
EGAF50000051375 fastq.gz 244.4 MB
EGAF50000051376 fastq.gz 197.4 MB
EGAF50000051377 fastq.gz 210.0 MB
EGAF50000051378 fastq.gz 197.2 MB
EGAF50000051379 fastq.gz 204.9 MB
EGAF50000051380 fastq.gz 219.3 MB
EGAF50000051381 fastq.gz 233.7 MB
EGAF50000051382 fastq.gz 196.9 MB
EGAF50000051383 fastq.gz 208.1 MB
EGAF50000051384 fastq.gz 168.7 MB
EGAF50000051385 fastq.gz 175.9 MB
253 Files (27.4 GB)