Mapping the clinical genome

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DECIPHER is used by the clinical community to share and compare phenotypic and genotypic data. The DECIPHER database contains data from 35561 patients who have given consent for broad data-sharing; DECIPHER also supports more limited sharing via consortia. Have a look at the numbers.

Anyone can browse publicly-available patient data on DECIPHER and request to be put in contact with the responsible clinician. Why? Because sharing benefits everyone.

Explore DECIPHER's genome browser Delve into the Human Phenotype Ontology Search all open-access DECIPHER data

Be part of the sharing community

Projects affiliated to DECIPHER can deposit and share patients, variants, and phenotypes to invite collaboration and facilitate diagnosis. Once deposited, you can use DECIPHER to identify and prioritise potential matches, and you can request notifications as soon as new matches arrive.

As well as influencing individual patient outcomes, use of DECIPHER has contributed to over 1000 published articles since 2004. It's still free, and you are in control of what data to make public.

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Latest news

DECIPHER v9.31 Released

We released version 9.31 of DECIPHER on the 4th of December, 2019. This release includes minor changes and updates.

Wellcome Genome Campus courses in early 2020, including DECIPHER workshops

Clinical Genomics: Fundamentals of Variant Interpretation in Clinical Practice, is an advanced course suitable for both clinical geneticists (consultants and trainees) and clinical scientists delivering genetic healthcare. Application and bursary deadline 27 November 2019

Genomic Practice for Genetic Counsellors, is focused on the fundamental aspects of genomics and bioinformatics that underpin clinical practice with a particular emphasis on learning how to do variant interpretation. Application and bursary deadline 12 November 2019

DECIPHER v9.30 Released

We released version 9.30 of DECIPHER on the 31st of July, 2019. This release includes minor changes and updates.

Happy 15th Birthday DECIPHER

DECIPHER has been sharing rare disease patient records for 15 years. Currently ~30,000 patient variant records are shared openly on the website and to date >2,000 papers have used DECIPHER data; a testament to the importance of match-making in rare disease.

Read about finding a diagnosis for Eilidh and how DECIPHER has been fuelling rare disease research for 15 years.


DECIPHER v9.29 Released

We released version 9.29 of DECIPHER on the 22nd of May, 2019. Improvements include:

For more news about DECIPHER, click here.


DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al (2009). Am.J.Hum.Genet 84, 524-533 (DOI:

Authors who use data from the project must acknowledge DECIPHER using the following wording: "This study makes use of data generated by the DECIPHER community. A full list of centres who contributed to the generation of the data is available from and via email from Funding for the project was provided by Wellcome."

Please see Citing DECIPHER for more information.