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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 17858 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 v9.2 Released
Version 9.2 of DECIPHER was released on Wednesday 16th September and includes the following new features and enhancements:
- HGVS code enabled deposition of sequence variants. Registered users can now quickly deposit their sequence variants by using standard coding- or genome-based HGVS strings. Upon successful interpretation, DECIPHER will automatically fill in chromosome, start, reference allele, alternate allele and transcript information.
- Assistance in choosing transcripts for sequence variant deposition. If you’re unsure of the exact transcript while depositing sequence variants, DECIPHER will suggest transcripts based on the chromosomal location provided, thereby making variant deposition easier.
- Re-order browser tracks from the tracks menu. Re-ordering tracks in DECIPHER Genoverse browser became even easier! You can re-order tracks from within the “Tracks” menu. To re-order tracks, click on “Tracks” and then simply move currently enabled tracks the way you want them arranged.
- Updated Population Copy-Number variants. We have included an updated version of population CNV data in Genoverse. The context menu now includes actual counts and frequencies making it easier to interpret complex regions where both deletions and duplications are commonly seen.
- Protein sequence on transcripts. At high zoom levels, transcripts will also show protein sequence.
- Sequence track. A separate genomic sequence track is now available to view genomic sequence when viewing copy-number variants.
- Filter to exclude one’s own patients. You can now choose to exclude your own overlapping patients from the DECIPHER: Copy-number variants or DECIPHER: Sequence variants track to make comparative analysis easier.
- Updated OMIM Morbid IDs. OMIM phenotypes have been updated leading to a higher and more accurate coverage across the genome.
- Overlapping patients. Are now sorted by decreasing functional similarity scores. New filter to exclude one’s own overlapping patients from this table.
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.