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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 26993 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 1000 published articles since 2004. It's still free, and you are in control of what data to make public.
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DECIPHER v9.24 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.
- The posterior probability scale bar for the January 2018 ClinGen SVIBayesian classification frameworkis now available on the Pathogenicity Evidence Conclusion.
- 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.
Essential System Upgrades Wednesday 6 June
There will be significant disruption to this service on Wednesday 6 June due toessential system upgrades. It is likely that disruption will extend beyond our usual weekly at-risk period, and the service should be considered at risk for the whole day. We apologise for any inconvenience this may cause.
Update: This work is now complete.
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 frameworkto 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.
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.
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 email@example.com. Funding for the project was provided by Wellcome."
Please see Citing DECIPHER for more information.