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 25354 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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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 v9.20 Released

We released version 9.20 of DECIPHER on the 24th of January, 2018. Improvements include:

  • All information regarding matching patients can now be filtered by attribute. This allows the most appropriate patient data to be displayed and considered more easily.

  • A list of phenotypes absent in matching patients in now displayed when viewing matching patients in a patient record.

  • Pertinent evidence and links to relevant evidence are now shown for each evidence line when recording ACMG pathogenicity evidence, assisting variant classification.

  • The protein viewer now displays DECIPHER sequence variants mapped onto proteins, alongside other relevant information, for proteins for which no pfam domain information is available.

DECIPHER v9.19 Released

We released version 9.19 of DECIPHER on the 29th of November, 2017. Improvements include:

  • Exon boundaries are now shown in the protein browser allowing the position of patient variants in relation to exon structure to be easily identified. Positional information and exon number is provided by clicking on the relevant exon or exon border.
  • Minor Allele Frequency information for combined gnomAD exome and genome data is now available on the annotation tab.
  • A link to Genomics England PanelApp, a crowdsourcing tool from Genomics England which allows gene panels to be shared, downloaded, viewed and evaluated by the scientific community, is now available on the clinical tab.

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 decipher@sanger.ac.uk. Funding for the project was provided by Wellcome."

Please see Citing DECIPHER for more information.