deciphergenomics.org

DECIPHER is a genomics database and collaboration resource that helps the clinical community share and compare human genetic variants and associated phenotypes. Its international collection includes data from tens of thousands of patients whose information has been consented for broad sharing, alongside options for more limited sharing through affiliated consortia. The platform supports the investigation of rare and complex conditions by helping users search for patients and variants, identify potential matches, and prioritise findings that may contribute to diagnosis.

Search tools cover genes, genomic positions, chromosome bands, phenotypes, inheritance patterns, variant consequences, syndromes, and specific DNA or protein changes. Users can also explore the human genome and phenotype browsers and access open data without logging in. Clinicians and affiliated projects can deposit patient, variant, and phenotype information to support collaboration, with the option to request notifications about new matches and to control which data are made public.

Users may request contact with the clinician responsible for a publicly available patient record