Exome sequencing in patients with Oliver McFarlane Syndrome
In this work, using exome sequencing, we identified biallelic PNLPA6 mutations in patients with childhood blindness due to severe photoreceptor death and clinical features of Leber congenital amaurosis (LCA) and, interestingly, also of the rare Oliver McFarlane Syndrome
- 27/05/2015
- 7 samples
- DAC: EGAC00001000249
- Technologies: AB SOLiD 4 System, Illumina HiSeq 2000
Data Access Agreement
Purpose: The Recipient agrees to use Data only for the ResearchConfidentiality: The Recipient agrees to preserve, at all times, the confidentiality of Data pertaining to identifiable Data Subjects. In particular, the Recipient under takes not to use, or attempt to use the Data to deliberately compromise or otherwise infringe the confidentiality of information on Data Subjects and their right to privacyData Protection: The Recipient agrees that it, and its Registered Users, shall not analyze or make any use of the Data in such a way that has the potential to: (a) lead to the identification of any Data Subject; or (b) compromise the anonymity of any Data Subject in anyway.Access and Governance: The Recipient agrees that it shall take all reasonable security precautions to keep the Data confidential, such precautions to be no less onerous than those applied in respect of the Recipient’s own confidential information. PublicationsThe Recipient agrees to acknowledge in any work based in whole or part on the Data, the published paper from which the Data derives and the version of the Data. The Recipient agrees to use the acknowledgement wording provided for the relevant Data in its publication. The Recipient will also declare in any such work that those who carried out the original analysis and collection of the Data bear no responsibility for the further analysis or interpretation of it by the Recipient. Registered Users: The Registered Users acknowledge the contents of this Agreement and agree to comply with the obligations herein. Signature:Name:Title:Date:Email:Research QuestionPlease provide a clear description of the project and its specific aims in no more than 750 words. This should include specific details of what you plan to do with the data and include key references.Please send completed form to:Dr. Jacek Majewski Associate ProfessorDepartment of Human GeneticsMcGill University and Genome Quebec Innovation Centre740 Dr. PenfieldMontreal, QC H3A 0G1CanadaEmail: Jacek.majewski@mcgill.ca
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 |
|---|---|---|
| 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 | |
|---|---|---|---|---|
| EGAF00000655448 | fastq.gz | 6.0 GB | ||
| EGAF00000655449 | fastq.gz | 6.1 GB | ||
| EGAF00000655564 | fastq.gz | 6.1 GB | ||
| EGAF00000655565 | fastq.gz | 6.2 GB | ||
| EGAF00000655566 | csfasta.gz | 920.9 MB | ||
| EGAF00000655567 | qual.gz | 1.9 GB | ||
| EGAF00000655568 | csfasta.gz | 951.9 MB | ||
| EGAF00000655569 | qual.gz | 2.0 GB | ||
| EGAF00000655570 | csfasta.gz | 798.6 MB | ||
| EGAF00000655571 | qual.gz | 1.7 GB | ||
| EGAF00000655984 | csfasta.gz | 800.0 MB | ||
| EGAF00000655985 | qual.gz | 1.7 GB | ||
| EGAF00000655986 | csfasta.gz | 1.7 GB | ||
| EGAF00000655987 | qual.gz | 3.6 GB | ||
| 14 Files (40.5 GB) | ||||