DECIPHER

DECIPHER’s mission is to lead an international collaborative effort to collect, annotate, share and aggregate genotypic and phenotypic data on rare disease patients in order to catalyse the discovery of new disorders and to improve clinical diagnostic interpretation of genome variation.

It is the only online data-sharing platform which provides live, rich contextualisation of genomic variation and phenotype data in patients undergoing research and diagnostic testing globally, including for underserved areas of the world.

Since 2004, collaborating rare disease genomics projects and clinical genetic diagnostic centres have uploaded and openly shared consented data on more than 38,000 patients.

Our plans to improve DECIPHER include driving increased global sharing and aggregation of clinical and research data; integrating relevant new research datasets to accelerate discovery science; developing functionality to support variant interpretation of the non-coding genome; and improving gene-phenotype-disease modelling to drive discovery research and drug development.

We will migrate DECIPHER from the Wellcome Sanger Institute to EMBL's European Bioinformatics Institute (EMBL-EBI), taking advantage of EMBL-EBI's rich resource environment and expertise in delivering web services and training.

DECIPHER will operate and grow in an efficient and sustainable manner, providing an essential bridge to research resources to strengthen their clinical impact.