Dear All,

Greetings from a warm and sunny Cambridge.

In this newsletter:

-          DECIPHER version 9.29

-          Opportunities to meet the DECIPHER team

 

DECIPHER version 9.29

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You can also view this on the web at: http://decipher.sanger.ac.uk/news

Users can now search for patient matches in RD-Connect (https://rd-connect.eu), in addition to PhenomeCentral, matchbox (Broad), GeneMatcher and MyGene2 using Matchmaker Exchange. Matchmaker Exchange (http://www.matchmakerexchange.org) is a federated platform to facilitate the matching of cases with similar phenotypic and genotypic profiles. Users with write access for a patient are able to search for matching patients using Matchmaker Exchange by going to the Matchmaker tab on the patient page and clicking on the “Query Matchmaker Exchange” button. Potential matches are shown in the DECIPHER interface.

 

Opportunities to meet the DECIPHER team

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Members of the DECIPHER team will be presenting at several upcoming conferences (see below). Please come and see us to discuss any DECIPHER related queries or share user experiences. We are always keen to meet our users and obtain feedback to improve the DECIPHER platform.

·         Curating the Clinical Genome 29-31 May, Washington DC, USA (https://clinicalgenome.org/about/events/curating-the-clinical-genome-2019

·         ACGS Summer Meeting 10-11 June, Birmingham, UK (https://www.acgs.uk.com/events/acgs-summer-meeting-2019)

·         European Human Genetics Conference 15-18 June, Gothenburg, Sweden (https://2019.eshg.org)

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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.

 

Best Regards

Julia, on behalf of the DECIPHER team

 

Julia Foreman PhD

DECIPHER Project Manager

Email: decipher@sanger.ac.uk

Web: https://decipher.sanger.ac.uk

Twitter: @decipher_wtsi