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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 18379 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.
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 700 published articles since 2004. It's still free, and you are in control of what data to make public.
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DECIPHER v9.3 Released
Version 9.3 of DECIPHER was released on Wednesday 21st October and includes the following new features:
- Gene Pages: Every gene now has its own automatically generated page containing information about the gene, collated phenotypes observed in DECIPHER consented sequence variants and other useful stuff! Please see: https://decipher.sanger.ac.uk/gene/SCN2A for the automatically generated page for SCN2A. We have also added links to the gene pages from the gene symbol on patient pages.
- Extended Patient Information: The patient information section has been expanded for all DECIPHER patient records to allow entry of additional information including details of pregnancy and birth, developmental milestones and growth measurements. All new items are optional but could be useful in creating a complete record for the patient in DECIPHER.The additional information is only available to view for the depositing project regardless of patient consent status.
- Search: Searching by phenotypes is now possible using HPO identifiers. Please prefix your query with “hpo:” followed by the HPO ID e.g. hpo:100024 to find all patients accessible to you in DECIPHER with the phenotype “Conspicuously happy disposition”.
- Genome Browser
- There is only one SNV legend (and you can move it around)
- ClinVar and HGMD variants are now coloured by consequence
- ClinVar, HGMD, and dbSNP popups have been tweaked
- Dosage Sensitivity Scores: DS scores on depositions of copy-number variants now take account of exon positions, and we have restored the graphs showing the deposited CNV dosage sensitivity score against background population data.
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: 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 firstname.lastname@example.org. Funding for the project was provided by the Wellcome Trust."
Please see Citing DECIPHER for more information.