Resource Webinar: DECIPHER

Speaker: Julia Foreman 

Date: 27th May 

Registration link to receive connection details

Platform Summary:  DECIPHER is an online data-sharing platform facilitating the visualization and contextualization of rare disease genomic and phenotypic relationships, to enable diagnosis and discovery. More than 250 academic clinical genetic centers and research centers from across the world deposit and share data through the platform. It currently openly shares >38,000 rare disease patient records containing >49,000 variants and >165,500 phenotypes. DECIPHER promotes proportionate data-sharing, the extent of data-sharing can be tailored so that it is proportionate to the clinical or scientific need to facilitate diagnosis or discovery.   

DECIPHER supports the deposition and interpretation of all types of genetic variation including sequence variants, CNVs, aneuploidy, UPD, STRs, inversions and insertions. The platform visualizes genomic data in GRCh38, enabling the most recent genome build and transcript information to be utilized. Variant interpretation interfaces are available, including a genome browser, 2D/3D protein browsers and a dynamic patient matching interface.   

DECIPHER is a pioneering partner in the Global Alliance for Genomics and Health (GA4GH) and a founder member of the Matchmaker Exchange, which enables the federated discovery of similar entries in connected databases. DECIPHER is an IRDiRC recognized resource and an associated partner of EJP-RD. 

Learning Objectives: Participants will be introduced to DECIPHER, including the type of patient data deposited to DECIPHER, and to DECIPHER’s data sharing model. They will also be shown how to find relevant patient records and be introduced to the variant interpretation interfaces within the platform.