Synthetic rare-disease cohort (CBS, homocystinuria) - ICDG use case
Data and Resources
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Additional Info
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| Title | Synthetic rare-disease cohort (CBS, homocystinuria) - ICDG use case |
| Description | SYNTHETIC germline rare-disease use case. Family trios on the 1000G Phase 3 chr21 backbone with a synthetic pathogenic variant modelled on CBS c.833T>C (classic homocystinuria, autosomal recessive) and HPO phenotypes. CONTROLLED access: discovery and Beacon count only; record-level data and file delivery require an approved access request via REMS. Beacon dataset id ICDG_synthetic_rare_CBS_chr21. No patient data. See docs/use-cases-cancer-rare-disease.md. |
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| Identifier | ICDG_synthetic_rare_CBS_chr21 |
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| Access rights | http://publications.europa.eu/resource/authority/access-right/RESTRICTED |
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