Illumina Omni5 SNP chip genotyping of MacTel cases and unaffected controls for a genome-wide association study

Study ID Alternative Stable ID Type
EGAS00001002249 Other

Study Description

Macular telangiectasia type 2 (MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS). We genotyped 704 samples, of which 678 have consented to be available here. These samples mainly include MacTel cases but also some unaffected controls (often spouses). The samples were collected through the MacTel Project (funded by the Lowy Medical Research Institute), which includes a registry and extensive clinical analysis to confirm the presence of MacTel in affected individuals. Additional controls were obtained from dbGap [phs000429.v1.p1]. After QC steps, the GWAS utilised 476 cases and 1733 controls of European ancestry.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
MacTel Projet consortium case and control genotypes from Ilumina Omni5 chip
Illumina Omni5 1

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