Genetic & genomic
DECIPHER
Genomic variation & phenotype platform
"Submitted patient cases with CNVs, variants and matched phenotypes."
About the resource
DECIPHER — Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources — is hosted at the Wellcome Sanger Institute and is the global reference platform for sharing submitted patient cases with rare genomic variants and matched HPO-annotated phenotypes.
It covers copy-number variants (CNVs), sequence variants and increasingly structural variants from genome data, with consent-managed sharing across more than 300 contributing centres in 40+ countries. DECIPHER's matchmaking service (part of the Matchmaker Exchange) helps clinicians find patients with similar genotype-phenotype profiles, which is often the only path to a diagnosis for very rare conditions.
What you'd use it for
- 01Submit a CNV and find other patients with overlapping variants and phenotypes
- 02Use Matchmaker Exchange to find a second case of a candidate disease gene
- 03Check whether a candidate variant has been seen before in clinical context
- 04Browse curated syndromes with characteristic CNV regions
How you access it
Web UIMatchmaker Exchange APIPer-centre case submission portal
Recent updates
- 27 Apr 2026Phenotype-matching API now public; expanded Matchmaker Exchange interoperability.