Greetings from a warm and hazy East Anglia.
In this update:
- DECIPHER v11.6 Released
- Optional DECIPHER ClinVar submission
DECIPHER v11.6 Released
You can also view this on the web at: https://www.deciphergenomics.org/about/news
It is now possible to query Matchmaker Exchange (https://www.matchmakerexchange.org/) through DECIPHER to find matches for small copy-number variants that overlap a gene, in addition to sequence variants. Matchmaker exchange allows the federated discovery of potential matching patients in connected databases. DECIPHER currently supports the searching for patient matches in PhenomeCentral, MyGene2, GeneMatcher, RD-Connect and Broad-seqr. When DECIPHER users query Matchmaker Exchange, overlapping phenotypes are now highlighted in the interface to enable relevant patient matches to more easily be identified.
On plots of individual patients' height, weight, and head circumference (visible to depositors who enter this information), the points representing individual observations are now connected with curves instead of lines, to better approximate the likely pattern of growth.
The genome browser tracks menu has been updated so that the available tracks are grouped to allow users to more easily find tracks of interest. The tracks menu can be accessed by clicking on the word "Tracks" in the top left of the genome browser.
It is now possible for DECIPHER depositors to copy a patient's phenotypes and associated HPO codes. Click on "Show simple term list" to view this information (this is only visible for patients in your own projects). This development helps enable interfacing with electronic health records and family tree programs.
Optional DECIPHER ClinVar submission
DECIPHER will soon support the deposition of variant data to ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) to enable the greater sharing and aggregation of variant data globally. Submission is optional and the coordinator(s) of a DECIPHER project must approve ClinVar deposition before DECIPHER will deposit data to ClinVar on their behalf.
DECIPHER will only deposit variant data from openly shared patient records, for which explicit patient consent for open sharing has been recorded in DECIPHER. Only openly shared data will be included in the submission. DECIPHER will deposit variant information and high level phenotype information, in addition to a link to the relevant DECIPHER patient record.
If you are interested in DECIPHER submitting the openly consented data in your project to ClinVar, please speak with the coordinator(s) of the project at your centre and/or contact us at contact(a)deciphergenomics.org
We look forward to your feedback and suggestions for improvement. Please use the "Feedback" button which is available on every page and fill in the simple form to get in touch with us. Your details will be filled in automatically if you are logged in.
Julia, on behalf of the DECIPHER team
Julia Foreman PhD
DECIPHER Project Manager