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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 29915 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 v9.29 Released
We released version 9.29 of DECIPHER on the 22nd of May, 2019. Improvements include:
- Users can now search for patient matches in RD-Connect, in addition to PhenomeCentral, matchbox (Broad), GeneMatcherand MyGene2using Matchmaker Exchange. Matchmaker Exchange is a federated platform to facilitate the matching of cases with similar phenotypic and genotypic profiles. Find the Matchmaker tab on your patient page between the Karyotype and Citations tabs.
2019 Curating the Clinical Genome Conference
Registrationis now open for Curating the Clinical Genome 2019 Conferenceco-hosted by ClinGenand DECIPHER. This conference will be of interest to a wide group of medical genomics researchers, clinicians practising genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing. The conference will take place May 29-31 2019 in Washington, DC, USA.
DECIPHER v9.28 Released
We released version 9.28 of DECIPHER on the 6th of February, 2019. This release includes minor changes and updates.
DECIPHER v9.26 Released
We released version 9.26 of DECIPHER on the 24th of October, 2018. Improvements include:
- The posterior probability for the January 2018 ClinGen SVI Bayesian classification framework is now displayed on summative assessments. The summative assessment tool supports multidisciplinary teams working to evaluate whether a variant(s) explains the clinical features seen in a patient.
- In the Genome Browser, the reference allele(s) for dbSNP variants are now displayed in the information popup.
DECIPHER v9.25 Released
We released version 9.25 of DECIPHER on the 12th of September, 2018. Improvements include:
- DECIPHER now incorporates the GRCh38 to GRCh37 UCSC LiftOver tool enabling users to deposit CNV and sequence variants with GRCh38 coordinates. This tool is available when depositing variants individually or via bulk upload.
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.
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 framework to 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.
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 Wellcome."
Please see Citing DECIPHER for more information.