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 25882 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

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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 v9.22 Released

We released version 9.22 of DECIPHER on the 25th of April, 2018. Improvements include:

  • Homozygous and Hemizygous gnomAD variants are now displayed on the protein browser. The new tracks allow the visualisation of protein changing and loss of function homozygous and hemizygous gnomAD variants.

  • Images of relevant amino acids are now displayed for missense sequence variants on the Consequence Prediction (VEP) tab in patient records.

  • Input values for cardiac conditions for calculating the maximum tolerated population allele frequency are now displayed in DECIPHER. The Tolerated Population Variation 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.

  • The DECIPHER pathogencitiy class Definitely pathogenic” has been changed to “Pathogenic” in line with ACMG and ACGS nomenclature.

DECIPHER v9.21 Released

We released version 9.21 of DECIPHER on the 7th of March, 2018. Improvements include:

  • Copy number variants are now displayed (and deposited) with a class (deletion, duplication, triplication, duplication/triplication, amplification) and genotype (hemizygous, heterozygous, homozygous). Mean ratio is now an optional field. This allows the context of the copy number variants in a patient to be recognised more easily.
  • A pathogenicity filter has been added to the LSDB track in the genome browser, allowing users to select the pathogenicity of variants they would like to visualise.
  • Matching patients with sequence variants can now be filtered by sex.
  • Phenotypes associated with sequence variants in your gene of interest are now shown in separate tables for pathogenic variants and for pathogenic/uncertain/unclassified variants. This allows users to select which cohort of variants in which they would like to visualise discriminatory phenotypes.

For more news about DECIPHER, click here.

Citing DECIPHER

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: dx.doi.org/10/1016/j.ajhg.2009.03.010)

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 http://decipher.sanger.ac.uk and via email from [email protected]. Funding for the project was provided by Wellcome."

Please see Citing DECIPHER for more information.