is a Data Source.
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is a web-based platform, hosted at the Wellcome Sanger Institute, that aggregates and shares anonymized clinical and genomic data on submicroscopic chromosomal imbalances and other genomic variants in patients with rare developmental and genetic disorders. It links genomic variants to associated phenotypes (using Human Phenotype Ontology terms) to support interpretation of variant pathogenicity and clinical diagnosis. DECIPHER integrates Ensembl genome resources and an international consortium of clinical genetics centers. It is an upstream data source for the SRI-Reference Knowledge Graph and the Monarch Initiative.
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| decipher.web | DECIPHER web platform | www.deciphergenomics.org | GraphicalInterface | http | DECIPHER web interface for browsing g... |
| decipher.downloads | DECIPHER downloadable data | data | Product | http | DECIPHER downloadable datasets, inclu... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| sri-reference-kg.graph | SRI-Reference KG (KGX distribution) | monarch-kg.tar.gz (219.4 MB) | GraphProduct | kgx | had primary source | KGX distribution of the SRI-Reference KG |
DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is a database and web platform hosted by the Wellcome Sanger Institute that shares anonymized clinical and genomic data on submicroscopic chromosomal imbalances and other genomic variants linked to patient phenotypes.
It supports interpretation of variant pathogenicity and clinical diagnosis of rare developmental disorders, and serves as an upstream data source for the SRI-Reference Knowledge Graph and the Monarch Initiative.
Created: June 18, 2026 | Last modified: June 18, 2026