MacTel_cohort_Omni5_genotypes
MacTel Projet consortium case and control genotypes from Ilumina Omni5 chip
- 14/06/2019
- 1 sample
- DAC: EGAC00001000595
- Technology: Illumina Omni5
MacTel SNP chip data access policy
Macular Telangiectasia type 2 (MacTel) is a rare neurodegenerative retinal eye disease. The mission of the Lowy Medical Research Institute (LMRI) is to identify the etiology of MacTel and develop therapies to treat the disease. The MacTel Project, which is overseen by the Lowy Medical Research Institute, carefully screens individuals to confirm the diagnosis of MacTel and collects blood samples from individuals enrolling in the MacTel registry. These blood samples are used to study the genetic basis of the disease, and are the sample source for this dataset. The use of these data is restricted to studies on Macular Telangiectasia type 2, and studies must be approved by the LMRI Data Access Committee. Data available: Approximately 700 samples with genotypes from the Illumina Omni5 SNP array. To apply for access to the LMRI dataset, please contact lscheppke@lmri.net.
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 |
---|---|---|
EGAS00001002249 | 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 | |
---|---|---|---|---|
EGAF00001579323 | fam | 11.6 kB | ||
EGAF00001579324 | bim | 133.5 MB | ||
EGAF00001579325 | bed | 789.3 MB | ||
3 Files (922.8 MB) |