Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features
Our probands A and B are boys-monozygotic twins with the clinical diagnosis of severe intellectual impairment, developmental stagnation, and dysphasia. They were diagnosed at the Department of Medical Genetics and Genomics (University Hospital Brno). Parents provided written informed consent, which was approved by the Research Ethics Committee of Masaryk University and Ethics Committee of University Hospital Brno. Peripheral blood samples were collected in sterile heparinized tubes for cytogenetic analysis. Genomic DNA samples were obtained from 1 ml peripheral blood in EDTA, according to the standard DNA isolation process using the MagNaPure system (Roche Diagnostics, Basel, Switzerland). Quality and quantity were checked using a DeNovix DS-11 Spectrophotometer (DeNovix Inc., Wilmington, DE, USA) and Qubit® 2.0 (Thermo Fisher Scientific, Inc., Waltham, MA, USA).
- 4 samples
- DAC: EGAC00001002145
- Technology: Illumina NovaSeq 6000
These terms and conditions govern access to the managed access datasets
1. The User Institution agrees to only use these Data for the purpose of the this Project and only for Research Purposes. The User Institution further agrees that it ill only use these Data for Research Purposes which are within the limitations. 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 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 Authorized 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 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. 8. 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. 9. The User Institution will notify broz@bioxsys.cz within 30 days of any changes or departures of Authorised Personnel. 10. The User Institution will notify broz@bioxsys.cz prior to any significant changes to the protocol for the Project. 11. The User Institution will notify broz@bioxsys.cz as soon as it becomes aware of a breach of the terms or conditions of this agreement. 12. broz@bioxsys.cz 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. 13. 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. 14. 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.
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 |
---|---|---|
EGAS00001005346 | 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 | Located in | |
---|---|---|---|---|
EGAF00005309089 | fastq.gz | 3.4 GB | ||
EGAF00005309090 | fastq.gz | 3.6 GB | ||
EGAF00005309091 | fastq.gz | 2.9 GB | ||
EGAF00005309092 | fastq.gz | 3.1 GB | ||
EGAF00005309093 | fastq.gz | 2.8 GB | ||
EGAF00005309094 | fastq.gz | 2.9 GB | ||
EGAF00005309355 | fastq.gz | 3.4 GB | ||
EGAF00005309356 | fastq.gz | 3.6 GB | ||
8 Files (25.5 GB) |