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 34964 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

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.


Essential Data Centre maintenance – Wednesday 10 July

Due to essential Data Centre maintenance, the DECIPHER website will be unavailable 9:00-12:00 (UK time) on Wednesday 10 July. The DECIPHER website should beconsidered at risk 9:00-17:00 (UK time) on this day.

If you require further information please contact

We apologise for any inconvenience caused.

DECIPHER v9.29 Released

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

DECIPHER v9.28 Released

We released version 9.28 of DECIPHER on the 6th of February, 2019. This release includes minor changes and updates.

DECIPHER v9.26 Released

We released version 9.26 of DECIPHER on the 24th of October, 2018. Improvements include:

  • The posterior probability for the January 2018 ClinGen SVI Bayesian classification framework is now displayed on summative assessments. The summative assessment tool supports multidisciplinary teams working to evaluate whether a variant(s) explains the clinical features seen in a patient.
  • In the Genome Browser, the reference allele(s) for dbSNP variants are now displayed in the information popup.

DECIPHER v9.25 Released

We released version 9.25 of DECIPHER on the 12th of September, 2018. Improvements include:

  • DECIPHER now incorporates the GRCh38 to GRCh37 UCSC LiftOver tool enabling users to deposit CNV and sequence variants with GRCh38 coordinates. This tool is available when depositing variants individually or via bulk upload.

DECIPHER v9.24 Released

We released version 9.24 of DECIPHER on the 18th of July, 2018. Improvements include:

  • The ACMG Pathogenicity Evidence editor is now displayed on the Pathogenicity Evidence tab before ACMG criteria have been selected, increasing accessibility to the editor.

  • It is now possible to add the phenotypes of a monozygous twin, dizygous twin sister or dizygous twin brother to a patient record.

  • The Allele Frequency tab has been reorganised to ensure that the Tolerated Population Variation Calculator is more accessible. This calculator can be used to determine whether a variant observed in the reference sample is too common to cause a given Mendelian disorder of interest.

DECIPHER 9.23 Released

We released version 9.23 of DECIPHER on the 23rd of May, 2018. Improvements include:

  • The incorporation of the January 2018 ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI) Bayesian classification framework to assist users interpreting ACMG pathogenicity evidence. This framework provides a mathematical foundation for what was a qualitative heuristic.

  • The addition of guidance, when users are recording pathogenicity evidence, from ClinGen SVIon the use of ACMG criteria PP5 and BP6 (reputable source
    criteria). These criteria reply on assertions in the absence of primary evidence.

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.