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Human exome sequencing data (n=2) from the publication "Germline variants in UHRF1 are associated with multi-locus imprinting disturbance in humans and mice"

II2_hg38.bwa.QC.vcf III1_III2_hg38.bwa.QC.vcf The VCF files of the mother (II:2) and both affected siblings (III:1+III:2, merged).

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DUO:0000007
version: 2021-02-23

disease specific research

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

ModifiersMONDO:0007534

DUO:0000015
version: 2021-02-23

no general methods research

This data use modifier indicates that use does not allow methods development research (e.g., development of software or algorithms).

DUO:0000021
version: 2021-02-23

ethics approval required

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

DUO:0000024
version: 2021-02-23

publication moratorium

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

University of Cambridge and Cambridge University Hospitals data sharing policy

The Data Producer confirms that it is entitled to provide the Data to the User for use as described in this Agreement. Nothing in this Agreement shall affect the ownership of the Data. The Data Producer grants the User a non-exclusive, non-transferable licence to use the Data solely for the Project in accordance with this Agreement. All other rights are reserved. The User Institution agrees to only use these Data for the purpose of the Project (as described in the DAA) and only for Research Purposes and in accordance with this Agreement and all applicable laws. 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 the DAA To the extent the Data includes any Personal Data, to Process such Personal Data in accordance with UK Data Protection Laws and to comply with Appendix IV. Further terms and conditions shall apply to any transfer of Personal Data, pursuant to this Agreement, to a country not covered by UK Adequacy Regulations (Restricted Transfer). In the event of such a transfer, the User Institution requesting access will be required to comply with additional disclosure and information requirements as specified by the Data Producer in its sole discretion. 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. 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. The User Institution agrees not to link or combine, or attempt to link or combine, these Data to other information or archived data available in a way that could re-identify the Research Participants or if doing so might create Personal Data, or to communicate with any individual re-identified from the Data, even if access to that data has been formally granted to the User Institution or is freely available without restriction. 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 and to ensure that those individuals are aware of and comply with this Agreement. 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. The User Institution agrees that the Data Producer, 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 User and / or the User Institution, that may arise (whether directly or indirectly) in any way whatsoever from the User and / or User Institution’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. Subject to clause 1, the User and User Institution agree to be liable for any loss, damage, claim and other liability of whatsoever kind or nature due to or arising from its use, handling, storage or disposal of the Data. Nothing in this Agreement limits or excludes any party’s liability for (a) death or personal injury resulting from negligence, (b) fraud or fraudulent misrepresentation, or (c) for any other liability which by law cannot be limited or excluded. The liability of any party for any breach of this Agreement will not extend to loss of business or profit or to any indirect or consequential loss or damage. The User Institution and the User both agree 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 and acknowledging the contribution of the Data Producer and the Data Producer Scientist as the source of the Data and including a proper acknowledgement in all reports or publications resulting from or relating to the use of these Data. The User and User Institution shall send the Data Producer a copy of any publication acknowledging use of the Data. The User Institution agrees to follow the Publication Policy in the DAA. This includes respecting the moratorium period for the Data Producer to publish the first peer-reviewed report describing and analysing these Data. 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. The User and User Institution shall promptly notify the Data Producer of any application for patent or other proprietary rights to protect intellectual property contained in the Results. Neither the User nor the User Institution shall use the Results for any commercial purpose without the prior written consent of the Data Producer. 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, provided that if the Data includes any Personal Data it shall be anonymised as soon as it is no longer necessary to retain it as Personal Data.. The User Institution will notify the Data Producer within 30 days of any changes or departures of Authorised Personnel. The User Institution will notify the Data Producer prior to any significant changes to the protocol for the Project. The User Institution will notify the Data Producer as soon as it becomes aware of a breach of the terms or conditions of this Agreement or of any unauthorised or accidental access, use or disclosure of the Data and to cooperate with any investigation made by the Data Producer in connection with such access, use or disclosure. The Data Producer 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. Any provision of this Agreement that expressly or by implication is intended to survive termination of this Agreement including but not limited to the User and User Institution’s obligations in clause 7 shall remain in full force and effect. The User Institution accepts that it may be necessary for the Data Producer to alter the terms of this Agreement from time to time. In the event that changes are required, the Data Producer or its 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. 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. 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. 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 England and Wales and shall be subject to the exclusive jurisdiction of the English courts. Neither the User nor the User Institution may assign or transfer this Agreement or any of its rights or obligations under it without the prior written consent of the Data Producer.

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
EGAS50000001179 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
EGAF50000412001 vcf 33.3 MB
EGAF50000412002 vcf 50.0 MB
2 Files (83.3 MB)